11 Mart 2008 Salı

Who Crossed the Bering Land Bridge?

How many founding Asian groups braved their way across the Bering land bridge during those frigid Pleistocene ice ages? Was it a single wave of people who later developed into the three distinct linguistic and cultural groups that populated the Americas, or were there multiple waves of people each with their own language and culture? Or was it some mix of the two? The issue has been and continues to be a topic of debate.
Linguistic studies of the Na-dene, Aleut-Eskimo, and Amerind language groups suggested that there were three waves across the land bridge, one for each language group. Recent genetic research, however, has suggested that there was only a single wave of founding groups into the Americas. (Read a free online review here).
Let’s assume, for the moment, that there was only a single wave of migration into the Americas over the Bering land bridge. The next obvious question might be, who was in that group? Like the previous question, this one can also be addressed with recent advances in genetic research, particularly the use of mitochondrial DNA. The current dogma (which in your opinion may or may not be struck down by today’s article) is that there were 5 founding haplogroups – A, B, C, D, and X. Indeed, the vast majority of Native Americans tested in modern times as well as ALL previous ancient remains have belonged to one of those five haplogroups.
A new study from a group of American and Canadian anthropologists has revealed the existence of sixth founding haplogroup in prehistoric Native Americans. DNA was extracted from the remains of two individuals found together in central British Columbia dated at 4950 +/- 170 years old and the haplogroup was analyzed through sequencing. Both individuals belonged to haplogroup M with the mutations 16093, 16213, and 16223. This is the first time that haplogroup M has been detected in Native American samples, either modern or prehistoric. Importantly, haplogroup M is found in Siberia, the source of the Native American’s ancestors.
What impact does this have on Native American studies? Together this study and another, discussed recently here on this blog, suggest that more than five haplogroups settled the Americas, and within each haplogroup there may have been more than a single haplotype. This could significantly reduce many of the estimates for the timing of the peopling of the Americas.

Governmental Regulation of Genetic Genealogy Tests?

Senator Edward Kennedy (D-Massachusetts) proposed a piece of legislation before the United States Senate on 1 March 2007 called the “Laboratory Test Improvement Act.” The Act is proposed as a series of amendments to the Federal Food, Drug, and Cosmetic Act (FFDCA).
Sen. Kennedy’s statement(pdf) before the Senate, found in the Congressional Record from this month, defines his goal as “[ensuring] the quality of clinical tests used every day in hospitals and doctors’ offices across the country.” Additionally, he pointed out that the “tests are being used to diagnose illnesses, predict who is most susceptible to specific diseases, and identify persons who carry a genetic disease that they could pass on to their children.”
On his website Sen. Kennedy posted a news release that clarified his position:
“The legislation will mandate that all providers of “homebrew” laboratory tests provide the FDA with evidence that verifies their analytical and clinical validity. All of the information submitted to the FDA will be compiled into a database, which will subsequently be made available to the public on the Internet. Presently, an overwhelming majority of the laboratory tests employed by health care facilities are homebrew tests that have not been approved by the FDA. In some instances, homebrew tests are used to diagnose Huntington’s disease and susceptibility to breast cancer. As such, the results of homebrew tests affect the lives of thousands of Americans and their families each and every year.”
Sen. Smith (R-Oregon), co-sponsor of this Act and Ranking Member of the Senate Special Committee on Aging, chaired a hearing in 2006 entitled “At Home DNA Tests: Marketing Scam or Medical Breakthrough?” that addressed the lack of regulation of “homebrew” genetic testing products.
So will this legislation affect the thousands of genetic genealogy tests sold by DNA laboratories in the United States? Most likely not, since genetic genealogy tests do not appear to fall under the ‘intent’ of the Laboratory Test Improvement Act. Rather, it would seem to include companies such as the nutrigenomics company MyCellf (discussed in a previous post) which screens DNA for gene variants associated with disease. Currently, genetic genealogy tests do not intentionally diagnose obvious disease variants (could CCR5, offered by FTDNA, be considered part of this group?).
The Laboratory Test Improvement Act defines a “laboratory-developed test” as one that uses “analytical methods developed by a laboratory to process a biological specimen, whether at 1 laboratory site or multiple sites, to report a test result to a health care practitioner, a patient, or a consumer; and includes an in vitro diagnostic product that the laboratory has modified, unless such modification requires preclearance or preapproval of such modified in vitro diagnostic product under this Act.”
The Act specifically excludes:1) “the processing of a biological specimen to: a) determine paternity, b) aid in forensics, or c) conduct research if the result of the test is not reported to a health care provider, a patient, or a consumer;2) An in vitro diagnostic product; or3) An analyte specific reagent [defined in the Code of Federal Regulations].”
The Act also states that laboratory-developed tests shall be classified as a “device” under section 201(h) of the FFDCA. Section 201(h) defines device as “an instrument, apparatus, implement, machine, contrivance, implant, in vitro reagent, or other similar or related article, including any component, part, or accessory, which is [among other things] intended for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment, or prevention of disease, in man…”
Based on the ‘intent’ of the legislation (suggested by Sen. Kennedy’s press release and statements before the Senate) and the definitions contained in the Act, it is unlikely that tests offered for genetic genealogy will fall under the scope of the Laboratory Test Improvement Act.
It is possible that companies offering genetic genealogy testing might be forced to comply with the Laboratory Test Improvement Act in the future if the scope of their sequencing grows. As whole-genome sequencing becomes cheaper and cheaper, companies will want to offer many more options to their customers, including disease gene variants. After all, unless the mutation is spontaneous we inherited the variant from our ancestors. Already the media is filled with stories of whole families that possess a dangerous allele and are submitting their DNA for testing. The line between testing for genealogical purposes and for purely genetic purposes is fading. That being said, the Laboratory Test Improvement Act clearly does not forbid any of the testing described. New “homebrew” tests will be allowed to come onto the market without FDA review provided they a warning that they have not been FDA-cleared or –approved. Perhaps this could benefit consumers by preventing testing by companies who offer sub-par services.
The Text of the proposed legislation is available here. Here is a blog discussion of the legislation and a news article that mentions Genelex, a company that offers both genetic genealogy tests and disease gene screening.
What are your opinions on this topic?

DNA Testing Jumps During Black History Month

With the arrival of Black History Month and following on the heels of PBS’s popular series ‘African American Lives’, increasing numbers of African Americans are deciding to explore the world of DNA testing and genetic genealogy. As a result many newspapers and magazines are taking the opportunity to introduce their readers to this increasingly popular avenue of genealogical research.
The Rocky Mountain News in Denver, Colorado is currently three articles into a six-part series examining the role and effect of genetic genealogy in African American research [Thanks to Genealogy Reviews Online]:
Saturday, 17 February 2007 (Two articles, here and here).Monday, 19 February 2007Tuesday, 20 February 2007Wednesday, 21 February 2007Thursday, 22 February 2007Friday, 23 February 2007
Fortune Magazine published an article, ‘Tracing African Roots Through DNA’, on February 16th in which the author uses the DNA testing firm African Ancestry to analyze his mtDNA and Y chromosome. The article also describes the (positive) psychological effects the results have on himself and his family.
Another magazine, Diverse: Issues in Higher Education has an older article, ‘Regaining a Lost Heritage‘. The author of this article also tests her mtDNA through African Ancestry. Interestingly, the author cites Dr. Bruce A. Jackson, Co-director of the African-American DNA Roots Project at the University of Massachusetts Lowell. Dr. Jackson explains his skepticism of African Ancestry’s ability to pinpoint a person’s mtDNA or Y chromosome ancestry to a single ethnic or geographic group because the databases are still so small. African Ancestry, however, contends that their DNA database is 5 times larger than any other comparable databases.

dna genes in fashion

Here are some recent news articles that mention the use of genetics in traditional genealogy:
Internet databases, DNA testing make genealogy an easy pursuit - but only for some – An Associated Press story about the use of DNA testing for people researching genealogy in countries (such as Asia, Africa, etc…) with few online databases.
Genes in fashion – The anthropology department of the California State University has tested the DNA of hundreds of students to create an exhibit called “Immigrants All! Our Migration Tales and Genetic Trails” in the department’s museum.
To Whom Else Does Your DNA Belong? – A response to reporter Amy Harmon’s recent story in the New York Times. Although I don’t agree with the strict opposition voiced in this student article, the title is very similar to the title I chose for my own response.
McCoy tempers in famed feud may have genetic cause – Many of the McCoy’s, one of America’s most famous feuding families, have a genetically inherited disease caused Von Hippel-Landau which cause tumors of the adrenal gland. This can lead to high blood pressure and hot tempers. It turns out that geneticists have been studying and publishing about the family for over 30 years and have traced the disease through at least 4 generations.
Rogue-gene discovery could end family’s tragedy – Another story about using genetics and genealogy to trace the distribution of a devastating mutant gene through a family. This gene, which triggers stomach cancer, has ravaged at least 5 generations of a family in New Zealand.

From the NYT: DNA Tests Offer Immigrants Hope or Despair

Although the article in today’s New York Times - “DNA Tests Offer Immigrants Hope or Despair” by Rachel L. Swarns - uses traditional paternity or maternity tests and not genetic genealogy tests, the emotional results of the tested can often be the same. What if DNA proves that your father isn’t your biological father? What happens when there is uncontestable proof that there was an NPE (non-paternal event) in your great-grandfather’s ancestry?
According to the article, federal officials in the Immigration Department are using “genetic testing to verify the biological bonds between new citizens and the overseas relatives they hope to bring here, particularly those from war-torn or developing countries where identity documents can be scarce or doctored.”
For example, Isaac has been in the U.S. away from his native Ghana and his four boys for 14 years. When he became an American citizen and the Immigration Department suggested that he take a DNA test to prove the biological relationship to his four sons, he agreed. Unfortunately, only the oldest boy was his biological child. That child could come to the U.S., but Isaac would have to find another way to bring over the other three children.
How often does this happen? “Mary K. Mount, a DNA testing expert for the A.A.B.B. - formerly known as the American Association of Blood Banks - estimates that about 75,000 of the 390,000 DNA cases that involved families in 2004 were immigration cases. Of those, she estimates, 15 percent to 20 percent do not produce a match.” That’s over 10,000 cases in one year alone!
Interestingly, many lawyers working with immigrants believe that the government’s use of DNA testing burdens immigrants because of the high price of the testing - as much as $450 to test a parent and child. As well, federal officials “acknowledge that genetic testing can carry an emotional toll.”
This is true for any type of testing, be it a paternity test, an mtDNA test, or (someday) a full genomic sequencing. Everyone has a picture of their own past in their mind, a collection of beliefs and identities that they’ve learned or heard or perhaps have made up. Evidence of another past based on DNA can often shatter those beliefs.
As these families struggle to come to terms with the results of the testing, they often come to the conclusion that the biological definition of family is not the only definition available. My favorite line in the story comes from Balfour Francis, a 44-year-old Jamaican-born welder in Brooklyn who is trying to have his daughter join him in America. After the DNA test showed that he is not the girl’s father, he stated, “I will not let anybody dictate who is my child.” Although the results can be painful and have a severe emotional toll, they do not change the love a parent has for a child.
As for Isaac, his immigration lawyer determined “that he could petition for the teenagers as their stepfather. He must prove that the boys are the children of his deceased wife. Isaac hopes that a DNA test of one of his wife’s siblings, which could be compared with that of the teenagers, would provide that proof.”
I highly recommend reading this article if you are interested in DNA testing. I’m sure that this will spark another wave of insightful and interesting discussion on the blogosphere, similar to the very controversial article I discussed previously here.

Faces of Britain

In 2005 the Wellcome Trust established a £2.3 million project (roughly 4.5 million USD) at the University Oxford to examine the genetic makeup of the United Kingdom. The project would be led by the renowned geneticist and Oxford Professor Sir Walter Bodmer, joined by Oxford Professor Peter Donnelly (a population genetics and statistics expert) and the Wellcome Trust Principal Research Fellow Professor Lon Cardon.
The goal of the project is to establish a knowledge base for analyzing genes that are linked to disease. To do this, the researchers hoped to gather DNA from 3000 to 3500 volunteers throughout the UK who live in the same area as their parents and grandparents. Each volunteer’s DNA will be tested for 2000 SNPs (single nucleotide polymorphisms). The data will be combined with each volunteer’s medical history in the attempt to find a link between genetic make-up and the inheritability or susceptibility of a number of diseases such as diabetes and Alzheimer’s. The data will also be used to isolate DNA sequences that characterize the founders of each region of the UK, be they Viking, Saxon, or Celt.
“Our aim is to characterise the genetic make-up of the British population and relate this to the historical and archaeological evidence,” says Professor Bodmer. “We are collecting samples from people in rural areas with all four grand parents from the same area so as to avoid the recent mixing up of populations in urban areas and to reach back in time as far as possible.
“Our samples will provide a valuable control for studies on disease susceptibility which depend on comparing the frequency of genetic markers in disease groups with that in control groups. If we are able to eliminate genetic markers linked to geography rather than disease, then we should be able to minimise the risk of finding spurious associations.”
To date, the researchers have collected approximately 1,500 samples and have analyzed the Y chromosomes of the male volunteers. The M17 variant of the Y chromosome, for example, is found in 20% of people from Norway but is very rare elsewhere in Western Europe. In the Orkney Island, almost 30% of the tested males have this variant, suggesting that the Norse Vikings settled the Islands. Surprisingly, the M17 variant is not found in areas where the Danish Vikings settled, supporting the conclusion that the Norse and Danish Vikings were genetically different.
Another interesting conclusion of the study so far is that two rare versions of the Mc1r gene occur at a much higher frequency in those areas that were settled by the Celts than in those areas settled by the Anglo-Saxons. These alleles of Mc1r are found in Scotland, Wales, Ireland, and regions of southwest England and are associated with red hair. In fact, Mc1r (melanocortin-1 receptor) is a member of the G-protein-coupled receptor family of proteins and it functions at the surface of specialized pigment producing cells called melanocytes. It is one of the key proteins in regulating hair and skin color.
Faces of Britain on Channel 4:
The researchers have also begun to present some of their findings to the public via the television series “Faces of Britain.” Last Saturday, April 14th, Channel 4 in Britain aired a program that highlighted the study’s current findings.
The findings, according to the program, supported the idea that the Viking invasion of Britain was predominately from Danish Vikings while the Orkney Islands were settled by Norse Vikings. Additionally, the results suggest that the Cornish people are a Celtic race that are more closely related to the Welsh than to their British neighbors (or should I say, neighbours).
The next Faces of Britain will be aired this Saturday, April 21st, but if you hurry you can watch the previous episode online for free (until Saturday) at www.channel4.com/od/.

Faces of Britain – The Book:
The study has also resulted in a book published in January of this year - “Face of Britain: How Our Genes Reveal the History of Britain” by Robin McKie. The book is available on the UK version of Amazon but I couldn’t find it here in the U.S.
Here is the publishers synopsis:
“Written into our facial features is a story going back generations. It is the story of who we are and where we are from - the history of Britain through war and conquest, migration and racial integration. The Channel 4 series, The Face of Britain, begins with the largest ever research project into the genetic make-up of the British public. The Welcome Trust has given a GBP2million grant to Oxford geneticist Sir Walter Bodmer to take DNA samples from hundreds of volunteers throughout Britain and find tell-tale fragments of DNA that reveal the biological traces of successive waves of colonisers - Celts, Saxons, Vikings, etc. - in various parts of Britain. These traces in part determine our facial features. In effect, this project will produce a genetic map of our islands revealing where today’s Cornish or East Anglians originally came from. The project is unique in that it uses cutting edge technology to question our accepted notions of our history. Added to this, the series and the book will meld science, history and personal stories to investigate our linguistic history, our surnames and placenames and compare findings with the results of the Bodmer study. The Face of Britain will be a launch pad to explore Britain’s earliest history while investigating why we look the way we do.”
Thanks to SpiritIndia.

Are aboriginal Australians and New Guineans the modern-day descendants of the extinct species Homo erectus?

Some scientists have hypothesized that Australian aboriginals received a portion of their DNA from an ancient hominid species called Homo erectus, which for a short time was contemporaneous with modern man. A recent study published in PNAS (Proceedings of the National Academy of the Sciences) set out to answer this question by analyzing mtDNA and Y-chromosome samples from aboriginals.
A total of 172 mtDNA and 522 Y-chromosome previously published and new sequences from aboriginal Australians and New Guineans were analyzed for mtDNA and Y-chromosome variation and were compared to the current world haplogroup tree. All of the mtDNA sequences were members of the M and N founder branches, and all of the Y-chromosome sequences fell into the C and F founder branches.
The results suggest that the Australian aboriginals are descendants of the same emigrant group that left Africa 50,000 to 70,000 years ago and populated Europe and Asia. At least from the small number of samples analyzed for this study, there does not seem to be any DNA contribution from Homo erectus.
The uniformity of the sequences suggests that once humans migrated into the region there was little other gene flow. This might explain why the Australian and New Guinean populations share phenotypic features that are unique to the region.
You can read more about this new study at National Geographic or NewScientist, or read the article online for free at PNAS. Additionally, Ron Scott at Scott Genealogy has provided a transcript (pdf) of an interview with Toomas Kivisild (one of the authors of the study and a name that many genetic genealogists will recognize).

Famous DNA Review, Part II – Genghis Khan

In 2003, researchers from around the world released a paper that suggested that 8% of all Mongolian males have a common Y chromosome because they are the descendants of Genghis Khan (See “The Genetic Legacy of the Mongols,” 2003, Zerjal, et. al., American Journal of Human Genetics, 72: 717-721). The researchers examined the Y chromosome variability of over 2000 people from different regions in Asia and discovered a grouping of closely related lines. The cluster is believed to have originated about 1,000 years ago in Mongolia and its distribution coincides with the boundaries of the Mongol Empire.
Genghis Khan’s empire (he ruled from 1206 – 1227) stretched across Asia from the Pacific Ocean to the Caspian Sea and was reportedly extremely prolific. Khan’s son Tushi had as many as 40 sons. His grandson Kublai Khan is reported to have had as many as 22 sons, and perhaps many more. Together this family may have as many as 16 million descendants alive in Asia today. It is extremely important to note that until DNA can be extracted from Khan’s bones (which have never been found), there is no definitive proof that this Y chromosome cluster is actually descended from Genghis Khan.
When Family Tree DNA compared the markers in the paper to their database they determined that the Y chromosome cluster belongs to Haplogroup C3 (M217+). Forty-seven samples in their database exactly matched the markers identified in the paper. The company has summarized the marker results from the paper and have made that information freely available.
A newly released study from Russian scientists examined the Y chromosomes of 1,437 men from 18 Asian ethnic groups (Altai Kazakhs, Altai-Khizhis, Teleuts, Khakasses, Shor, Tuvinians, Todjins, Tofalars, Soyotes, Buryats, Khamnigans, Evenks, Mongolians, Kalmyks, Tajiks, Kurds, Persians and Russians). The researchers discovered that approximately 35% of Mongolians possess the “Khan” Y chromosome. Surprisingly, the results of the study suggest that although the Mongol Empire held eastern Russia for 250 years, there are few “Khan” Y chromosome carriers in that region.
You can read more about the 2007 study at UK Channel 4 or at Scientific Blogging.

Lotsa Links - Forbes Magazine and Genetic Genealogy

The Forbes Series – Forbes has an excellent series of articles relating to genomic sequencing and genetic genealogy. It is well-timed and full of interesting things to think about. I highly recommend reading them all!
1. Will You Get Cancer?
2. The Telltale Tumor
3. Never Mind You – What About Me?
4. Genes of the Rich and Famous
5. Genealogy Gets Genetic
6. 12 Genes That Could Change Your Life

“Genome of DNA Pioneer is Deciphered” - This is a write-up by Nicholas Wade in the New York Times. Unfortunately, Mr, Wade used the word ‘deciphered’ in the article rather than ‘sequenced’. I’m not convinced that this was his choice, but he’s getting some flack for it. In any event, it appears that Watson’s sequence took 2 DVDs rather than just one! There’s a write-up at Nature News as well.
Additionally, the article states Dr. Craig Venter completed his own genome at the Venter Institute in Rockville, Md., and deposited in GenBank last week. There’s no way that the timing was coincidental; he obviously published his genome last week in order to beat Watson to the punch. According to a recent Nature News article (subscription only, here), an analysis of Venter’s genome will be described in a paper in the journal PLoS Biology, and he’s also writing a book, A Life Decoded: My Genome, My Life about his personal genome. The good news is that PLoS Biology is a free access journal, so the vast majority of the population who aren’t in academia can actually read and enjoy this article when it comes out! (In case you can’t tell, I’m a huge proponent of free and open publishing of data, especially that data funded with my tax dollars!!!).

Genetic Genealogy and the Amish

I am a genetic genealogist because I thought it would be a fun and interesting thing to do. Some people, however, are genetic genealogists because it is a matter of life and death.

The Amish/Mennonites and Genetic Disorders
The Amish migrated from Europe (Germany/Switzerland) to the United States in the 1700s. One such group, the Old Order Amish of Lancaster County, Pennsylvania, began with 200 Swiss immigrants. Today, there are roughly 200,000 Old Order Amish. Because of the difficult lifestyle, the lack of evangelism, and the language barrier, there is essentially no conversion to the Amish religion. In addition, marriage outside the community is forbidden. As a result, the community has remained closed for over 10 generations and is still using the same 200 genomes of their founders! This is known as “founder effect,” which means that a population is started by just a small number of individuals and as a result that new population will be different (both genetically and phenotypically) from the parent population, potentially with low genetic variation.
If I were to sequence the genomes of 200 individuals that I had somehow randomly selected, I would undoubtedly uncover a number of undesirable mutations hidden in their genes. Most of these mutations would not cause any detectable phenotype because these individuals would still have a healthy copy of the mutated gene (for the DNA newbies, we all carry 2 sets of 22 chromosomes plus 2 sex chromosomes, meaning that we have two copies of most genes).
Within the Amish populations, the mutated gene perpetuates and flourishes because it is never diluted into the general public. This means that it becomes increasingly likely that two individuals, both carrying a copy of the mutated gene, will marry and produce offspring. These children then have a random chance of inheriting two mutated copies of the gene.
Crigler-Najjar Syndrome
A recent article in USA Today, “Blue glow signifies life in peril in Pennsylvania Dutch country” analyzes the effect of one of the genetic diseases threatening the Amish. Crigler-Najjar syndrome is extremely rare, with only about 110 known cases in the entire world. Almost 20% of those cases are among the Amish and Mennonite in Pennsylvania.
People with Crigler-Najjar syndrome are unable to break down bilirubin, a natural waste product from old blood cells, and it builds to a toxic level in their blood. Untreated, the condition leads to brain damage and death. The afflicted, with yellowed eyes and golden skin as a result of their condition, are forced to spend 10 to 12 hours a day in bed underneath bright blue lights to… These beds cost about $1,000, and fans must be used to keep the children cool under the intensity of the lights. Although there is no cure, a liver transplant is one option.
The Clinic for Special Children
In 1990 a clinic opened in Straburg that specialized in children with rare diseases. The Clinic for Special Children was founded by Dr. Holmes Morton, who once worked with Dr. John Crigler, the physician who first described Crigler-Najjar syndrome in 1952 with Dr. Victor Najjar. The building, located on a site that was once an Amish field, was erected by 70 local men in the traditional barn-raising manner.
According to Wikipedia:
The clinic treats about 600 children for 80 different genetic disorders or syndromes such as glutaric aciduria (GA1), maple syrup urine disease (MSUD), Crigler-Najjar syndrome (CNS), and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). Not all the children are Amish; about 15% of the caseload come elsewhere, including Africa and Asia. About 75% of the children are treatable—and a third of those are highly treatable, many through techniques developed at the center
There’s a great brochure available that provides an in-depth description of the Clinic. In 2006, Dr. Morton was awarded a MacArthur Foundation “genius grant” for his work. A well-deserved honor, if you ask me. Here is a list of some of the publications associated with the Clinic for Special Children. Here are some other articles about the Clinic, including the Genome News Network, the New York Times, Scienceline, Affymetrix, and here. For more information about the Amish/Mennonites and genetic disorders, see this brief review by Laura Weeks (pdf!).

Interestingly, there is a Swiss Anabaptist DNA Project at FTDNA, but unsurprisingly there are very few samples so far. Another interesting source of information about Amish/Mennonite genetic genealogy is the Yoder Family Website, which contains links to DNA testing by members of the Yoder Family.
Hsien at EyeonDNA wrote about this topic at Genetics and Health, and if you read the article, you’ll see that even her “doctorate genealogy” has a link back to Amish studies.

Genetic Genealogy and Non-Paternal Events

There is a certain occurrence in genetic genealogy called a Non-Paternal or Non Paternity Event. This is a break in the ancestry of a person’s Y chromosome and surname. A person named “Smith,” for instance, might have a Y chromosome that is clearly “Johnson.”
A non paternal event can occur when an adopted male takes the surname of his adoptive family, or a male child takes his step-father’s surname, or a male child takes his mother’s surname (undoubtedly there are other circumstances as well).
When a break in the Y chromosome is suspected or confirmed, it is possible that the break might have occurred 1,000 years ago, 100 years ago, or with the testee’s birth.
An article in The Atlantic titled “Who’s Your Daddy” addresses the ‘unintended consequences of genetic screening for disease.’ Or, in some cases, the unintended consequences of testing for genetic genealogy. The author, Steve Olson, recently underwent genetic genealogy testing:
“A scientific officer at a genetic testing company knew that I was interested in genealogy, and he had offered to run my DNA through a sequencer. A few weeks earlier, I’d swished mouthwash inside my cheeks, sealed the mouthwash in a tube, and mailed the tube to the company.”
The results of Mr. Olson’s (when I say that name out loud, all I can think of is ‘Little House on the Prairie’!) test revealed that his DNA was what he predicted it would be – of Scandinavian descent.
However, as Mr. Olson points out, this doesn’t always happen. The article cites Bennett Greenspan, of Family Tree DNA, as stating that “any project that has more than 20 or 30 people in it is likely to have an oops in it.” This aligns well with the traditional belief that anywhere from 5 to 15% of men are not the actual biological fathers of their children. Following this out 10 generations, there is a 40% chance of a non-paternal event!
Along the same lines, a recent article was published on the Wall Street Journals ‘informedreader’ blog titled “As DNA Tests Spread, So Do Nasty Paternity Surprises.” The article cited Steve Olson’s piece in The Atlantic.
I must admit, I have a deep understanding of this issue and the effect it can have on tested individuals. I have a solid paper trail to Germany back to the 1750’s, but when I received the results of my test, I was shocked to find that my DNA belonged to a small and unique subclade of R1b1c that was only found in England! All of my closest matches also originated in the British Isles.
My first thought was a non-paternal event. I even asked my Mom whether my dad was actually my dad (I was 99.9% joking, of course)! I was so proud of my German heritage, and here I was faced with the possibility that I wasn’t German at all.
However, after a few months, new results showed that other people belonging to the unique subclade of R1b1c also originated in the same area of Germany that my ancestors came from. Thus, rather than worrying about a potential non-paternal event, I was the first person identified with this subclade to be from Germany.
Thanks to Hsien at EyeonDNA for her help!

Ethical and Legal Issues Surrounding Large-Scale Genomic Databases

I recently came across a review article by Henry T. Greely, a Professor of Law, Professor (by courtesy) of Genetics, and Director of the Center for Law and Bioethics at Stanford. The article is entitled “The Uneasy Ethical and Legal Underpinnings of Large-Scale Genomic Biobanks (pdf)” and was recently published in the Annual Review of Genomics and Human Genetics.
According to Mr. Greely, the identity of participants in large-scale genomic biobanks cannot effectively protected. A biobank is defined as a database of genotypic and phenotypic data. Using genetic information, physical information, or a combination of the two, people can identify an individual in such a large database:
“Someone really interested could get a DNA sample from me - from a licked stamp, a drinking glass, or some tissue - and have it genotyped for a few hundred dollars, but few will have to go to the genomic data; the phenotypic and demographic data will often be sufficient.”
“Eliminating name, mailing address, and social security number does not eliminate identifiers; it just eliminates the easiest identifiers, making the search somewhat more difficult and expensive.”
Unfortunately, it is impossible to remove all the data one could use to identify biobank participants. As Mr. Greely opines, “[t]he more the data is removed or obscured, the more scientific value is lost; the more data is kept, the less real the anonymity.”
So what is the answer? First, consent forms must reveal the fact that while biobanks will attempt to provide anonymity, they simply will not be able to guarantee it. They must also reveal that they cannot inform subjects of all the risks and benefits because many future research topics haven’t even been suggested as of yet. Second, biobanks must prevent participants from being upset by unexpected uses of their materials, either through a thorough consent form, or through general communication with research subjects (such as a mailing list or online community). Third, researchers have a moral (and perhaps legal) duty to inform participants of potentially harmful information uncovered by research. This raises a whole host of questions, including how significant the correlation between a gene and a disease must be to require a participant’s knowledge, how long the biobank should monitor the participant’s genetic information, and whether the biobank should be responsible for genetic counseling.
Mr. Greely raises a number of interesting questions that will have to be answered by governments and companies around the world as the need for biobanks increases and the relative ease of biobank creation decreases.

The Early Stages of the Genetic Genealogy Revolution

It’s always been my belief that personal genetics (inexpensive whole-genome analysis) will bring about some exciting changes in the field of genetic genealogy. One of the biggest areas of change will undoubtedly be in the area of autosomal genetic testing. (Remember that autosomal testing examines nuclear DNA, which is DNA other than mtDNA, Y-DNA, or X chromsomes).
A new study takes one of the first steps in the genetic genealogy revolution by examining SNP variations in four self-identified American populations – European, Latino/Hispanic, Asian, and African American (see reference below). “These population labels were used, despite the controversy surrounding the correspondence between notions of race and population structure inferred from explicit genetic data, because they are the labels used by NIH, FDA, and many, if not most, biomedical researchers.” The researchers sequenced the exons and flanking regions of 3,873 genes from 76 unrelated individuals.
SNPs common in one population were frequently not common in other populations. “Moreover, SNPs that were common in two or more populations often differed significantly in frequency from one another, particularly in comparisons of African Americans versus other U.S. populations. These findings indicate that even if the bulk of alleles underlying complex health-related traits are common SNPs, geographic ancestry might well be an important predictor of whether a person carries a risk allele. “
“A frequent claim about human population structure is that most common variation is shared among all populations. This, of course, depends on how population boundaries are defined, but often cited to support such comments are the comparisons of SNP frequencies in pairs of populations in the HapMap data and the Perlegen data. Analyses of these data indicated that common SNPs were frequently both shared and common among populations of predominately African, Asian, and European ancestry. However, population genetic analysis was not the intended goal of either the HapMap or the Perlegen projects, and common, shared SNPs were over sampled by the ascertainment strategies used for each project.”
The structure of common SNP variation differed substantially in African Americans compared with all other U.S. populations studied. “The largest absolute number of SNPs, common SNPs, and private SNPs were found in African Americans. African Americans exhibited the highest proportion of rare SNPs (64%), the lowest proportion of common SNPs (36%), and nearly half of all SNPs (44%) in African Americans were private.”
Although I still think it is too early for useful autosomal testing, this type of data suggests that there is a bright future for geographic ancestry.
Reference: The Structure of Common Genetic Variation in U.S. Populations. Stephen L. Guthery, Benjamin A. Salisbury, Manish S. Pungliya, J. Claiborne Stephens, and Michael Bamshad. The American Society of Human Genetics (Link(pdf, requires subscription)).
HT: Dienekes’ Anthropology Blog

J. Craig Venter and Personal Genetics

Wow, what a day for personal genetics. Yesterday, J. Craig Venter’s diploid genome was released (I’m not sure where the sequence is, but the paper is available at PLoS Biology, a OPEN ACCESS journal!).
I know that many people have their gripe about Venter, but seeing a story about personal genetics on the front page of CNN is important. It educates people and helps alleviate fears about genomic sequencing. I think it’s a great opportunity for the field. Here’s a few quotes from the CNN story:
“Venter has just published almost all 6 billion letters, or 96 percent, of his own personal genetic code in the journal PLoS Biology. From diseases to personality traits, it’s the most comprehensive human genome to date. Venter’s gene map provides a new understanding of his genetic destiny, according to the DNA inherited from both his father and his mother.
Venter says it’s just the beginning of a new era of personal genomics. “For the first time, we can answer almost any question of what’s genetic, what’s the environment. Our genes can tell us probabilities of what might happen and give us a chance to do something about it.”
There are also some quotes from George Church, leader of the Personal Genome Project:
“Dr. George Church, a professor of genetics at Harvard Medical School, is working on a DNA test that would identify for the consumer 1 percent of his or her DNA at a cost of $1,000. He says that someday soon, people may be checking their DNA maps as they do their stock portfolios — constantly adjusting to everyday developments and new gene discoveries.
“You’ll have all that information sitting at your desk and as the information flows in you’ll say, ‘I only want to know things of certain type. I don’t want to know about Alzheimer’s, or I don’t want to know about heart disease, or I do, or I want to know about everything, as soon as it comes in,” says Church.
It’s a habit Venter already follows. As more genes are discovered, he says, he constantly checks his own genome.”
For all the genetic genealogists out there, our habit will undoubtedly be comparing our genomes in order to find or identify potential relatives. Sure, curing disease and improving health is important, but genealogy is FUN!
The DNA Network has provided LOTS of coverage of the diploid genome release, so check out the following:
EyeonDNA, here and here.
Discovering Biology in a Digital World
The Genealogue (not a member of the DNA Network).
Whew, that should keep you busy for a while!!

Genetic Genealogy In the News

There is so much information about genetic genealogy in the news right now that I am having a hard time keeping up. That, of course, is good news. So here is a round-up of some of the best from the web:
Seeking Columbus’s Origins, With a Swab” is an article in today’s New York Times (HT: Liz). Scientists and genetic genealogists hope to use Y-DNA to compare DNA that might be Columbus’s to modern-day people with a related surname.
Genetic Genealogy Mildly Hot” is a post by Hsien at Eye On DNA that explains why “family tree dna” was one of the top 100 searches at Google Trends yesterday. Got a guess?
In “60 Minutes on DNA: Deja Vu All Over Again“, Megan Smolenyak looks at Sunday’s 60 Minutes segment about genetic genealogy. It’s a brilliant post, especially with the following sentence:
“Since I’ve been watching this same formula repeat itself since 2001, I’ve developed a pet peeve about the built-in, patronizing assumption that genealogists are too dense to understand the fundamentals of what DNA can and can’t do — rather than the reality that we’re pioneers delighted with the prospect of learning what had previously been unknowable and well aware of the limitations.”
We’re pioneers, people! If there is anyone being tested who doesn’t understand the limitations of genetic genealogy, then they’re not reading The Genetic Genealogist, or Megan’s Roots World.
There’s some new information about 23andMe’s latest round of venture capital funding.
Genomics: The Personal Side of Genomics” is a round-up by Nature of some of the latest innovations in DNA sequencing. A nice discussion of some aspects of The Personal Genome Project (HT: Brian).
The DNA Cracker: Closing the Book on Jack” is an article about using DNA databases to find relatives and identify potential suspects for criminal investigations. The article is also largely about Bryan Sykes, the founder of Oxford Ancestors (HT: Hsien).
And finally, the Sorenson Molecular Genealogy Foundation (SMGF) has announced that its DNA database will expand by at least 30,000 samples this year, due to expansive collection projects in a number of regions around the world.

10 DNA Testing Myths Busted

1. Genetic genealogy is only for hardcore genealogists.
Wrong! If you’ve ever wondered about the origins of your DNA, or about your direct paternal or maternal ancestral line, then genetic genealogy might be an interesting way to learn more. Although DNA testing of a single line, such as through an mtDNA test, will only examine one ancestor out of 1024 potential ancestors at 10 generations ago, this is a 100% improvement over 0 ancestors out of 1024. If you add your father’s Y-DNA, this is a 200% improvement. Now add your mother’s mtDNA, and so on. However, with this in mind, please note the next myth:
2. I’m going to send in my DNA sample and get back my entire family tree.
Sorry. DNA alone cannot tell a person who their great-grandmother was, or what Italian village their great-great grandfather came from. Genetic genealogy can be an informative and exciting addition to traditional research, and can sometimes be used to answer specific genealogical mysteries.
3. I would like to try genetic genealogy, but I’m terrified of needles.
Good news! Genetic genealogy firms don’t use blood samples to collect cells for DNA testing. Instead, these companies send swabs or other means to gently obtain cells from the cheek and saliva.
4. I would like to test my ancestor’s DNA, but they died years ago.
You don’t always need your ancestor’s DNA to get useful information from a genetic genealogy test. If you are male, you contain the Y-chromosome (Y-DNA) that was given to you by your father, who received it from his father, and so on. Both males and females have mitochondrial DNA (mtDNA), which was passed on to them by their mother, who received it from her mother, and so on. Everyone of us contains DNA (Y-DNA and/or mtDNA) from our ancestors that can be studied by genetic genealogy.
5. I want to test my mother’s father’s Y-DNA, but since he didn’t pass on his Y-chromosome to my mother, I’m out of luck.
Wrong! There is a very good chance that there is another source of that same Y-DNA. For instance, does your mother have a brother (your uncle) who inherited the Y-DNA from his father? Or does your mother’s father have a brother (your great-uncle) who would be willing to submit DNA for the test? Sometimes there might not be an obvious source of “lost” Y-DNA, or no one in the family is willing to take a DNA test. The secret to solving this problem is to do what every good genealogist does – use traditional genealogical research (paper records, census information, etc) to “trace the DNA”. Follow the line back while tracing descendants in order to find someone who is interested in learning more about their Y-DNA. This applies to finding a source of mtDNA as well.
6. Only men can submit DNA for genetic genealogy tests, since women do not have the Y-chromosome.
Wrong! Most genetic genealogy testing companies also offer mtDNA testing. Both men and women have mtDNA in their cells and can submit that DNA for testing. In addition, women can test their father’s, brother’s, or some other male relative’s Y-DNA to learn more about their paternal ancestral line, even though they did not inherit the Y-chromosome.
7. My genetic genealogy test will also reveal my propensity for diseases associated with the Y-chromosome and mtDNA.
Wrong, thank goodness. Most of the information obtained by genetic genealogy tests has no known medical relevancy, and these firms are not actively looking for medical information. It is important to note, however, that some medical information (such as infertility detected by DYS464 testing or other diseases detectable by a full mtDNA sequence) might inadvertently be revealed by a genetic genealogy test.
8. I don’t like the thought of a company having my DNA on file or my losing control over my DNA sample.
This is, of course, an understandable concern. However, most testing firms give a client two options: the DNA is either immediately destroyed once the tests are run, or it is securely stored for future testing. If the DNA is stored, the firm will typically destroy the DNA upon request. If the long-term storage of DNA is a concern, be sure to research the company’s policy before sending in a sample.
9. If my test reveals Native American ancestry, I plan to join a particular Native American affiliation group.
Although genetic genealogy can potentially reveal Native American ancestry (for instance, my mtDNA belongs to the Native American haplogroup A2), it is incredibly unlikely that this information will be sufficient to positively identify the specific source of the lineage (such as a tribe) or allow membership in a particular Native American affiliation.
10. My DNA is so boring that genetic genealogy would be a waste of time and money.
Very wrong! A person’s DNA is a very special possession – although everyone has DNA, everyone’s DNA is different (okay, except identical twins – if your identical twin has been tested, you should think twice about buying the same test!). As humans settled the world, Y-DNA and mtDNA spread and mixed randomly. As a result, it is impossible to guess with 100% assurance that a person’s Y-DNA or mtDNA belongs to a particular haplogroup (a related family of DNA sequences) without DNA testing.
BONUS MYTH: My genetic genealogy test says that my mtDNA belongs to Haplogroup A2. Juanita the Ice Maiden, a frozen mummy discovered in the Andes Mountains in Peru also has Haplogroup A2 mtDNA. Therefore, she must be my ancestor!

Links From The Genetic Genealogist

In order to clean out posts I’ve been saving in Google Reader (does anyone else keep posts in Reader until you’ve blogged about them?), I decided to have a potpourri day. The following are links to interesting articles around the blogosphere. And Happy Halloween!
Pedro at Public Rambling has The Fortune Cookie Genome, a ’science fiction’ post about picking up the results of his whole genome scan from his genetic advisor. Of course, it’s only science ‘fiction’ until it’s science ‘reality’!
The Women’s Bioethic Project has an article about DNA Testing Without Consent, which asks whether there should be a ‘reverse’ statute of limitations for testing DNA from famous dead people. The article was written in response to a recent story in Parade. I talked about this briefly back in August (see “DNA From the Dead“), and I’m working on a post about “Discarded DNA and the Constitution”, so stick around. HT: Eye on DNA.
Tim at Genealogy Reviews Online continues his review of DNA Ancestry with DNA Ancestry Review Part 2. In this installment, Tim describes the DNA collection process.
At The Tree of Life, Jonathan Eisen presents the Overselling Genomics award to Newsweek as a result of their “10 Hottest Nerds” story. Personally, I think any story that brings science to the masses in an connectable way is beneficial, but I agree that the lack of women on the list was a huge oversight.
At genomeboy.com, Misha Angrist dissects the recent Portfolio piece about personal genomics companies such as 23andMe and Navigenics. He also highlights that familiar $12.5 billion “potential market” quote. I wish I knew who and how that number has come from.
And finally, Alan Boyle at Cosmic Log writes about The Secrets in Your Genome, which is about the International HapMap Consortium’s latest release:

Dna Source

By the early 1970s, Sanger was interested in deoxyribonucleic acid (DNA). DNA sequence studies had not developed because of the immense size of DNA molecules and the lack of suitable enzymes to cleave DNA into smaller pieces. Building on the enzyme copying approach used by the Swiss chemist Charles Weissmann in his studies on bacteriophage RNA, Sanger began using the enzyme DNA polymerase to make new strands of DNA from single-strand templates, introducing radioactive nucleotides into the new DNA. DNA polymerase requires a primer that can bind to a known region of the template strand. Early success was limited by the lack of suitable primers. Sanger and British colleague Alan R. Coulson developed the “plus and minus” method for rapid DNA sequencing. It represented a radical departure from earlier methods in that it did not utilize partial hydrolysis. Instead, it generated a series of DNA molecules of varying lengths that could be separated by using polyacrylamide gel electrophoresis. For both plus and minus systems, DNA was synthesized from templates to generate random sets of DNA molecules from very short to very long. When both plus and minus sets were separated on the same gel, the sequence could be read from either system, one confirming the other. In 1977 Sanger's group used this system to deduce most of the DNA sequence of bacteriophage FX174, the first complete genome to be sequenced.

DNA Analysis and Intra-Agency Databases

In the 1990’s DNA testing started to become popular particularly in the area of Law Enforcement. Old pieces of evidence to include hair, blood and semen which were once not able to provide evidence now were able to be processed and evidence and a DNA profile could be extracted from the materials. Thanks to DNA many unsolved cased were able to be solved and many suspects of crimes were finally able to be charged. DNA has also helped the innocent from wrongful incarceration. DNA evidence is becoming mandatory in states in terms of death row inmates and proving that the right person is behind bars. In 2000, Illinois Governor George Ryan announced his plan to suspend all of the states executions indefinitely. Governor Ryan’s made this landmark statement after DNA testing showed that 13 Illinois death-row prisoners could not have committed the capital crimes of which they were convicted. DNA is not just putting people in prison; it is also ensuring that those in prison should be there. DNA is being used to confirm the conviction and ensure that the right person is serving time for the crime. In what is bring described as the first effort of it’s kind San Diego prosecutors are reviewing hundreds of old cases to see if longtime prison inmates can be cleared by DNA evidence. If evidence is found, the San Diego County District Attorney’s office will have it tested for free if an inmate agrees. Not only does this get innoscent people out of prison it also helps to build out the national DNA database. Part of the DNA testing of inmates is that the inmate’s DNA will end up in a national database where it may be used to solve other cases which have gone unsolved. San Diego Country Prosecutors are looking at a total of 560 criminal cases. Since DNA has been introduced thousands of suspects and prison inmates have been cleared and released as a result of DNA evidence showing they could not have been responsible for the crime. A popular case that outlined this is the Larry Youngblood case. Larry Youngblood was convicted in 1985 of child molestation, sexual assault, and kidnapping. He was sentenced to ten years and six months in prison. In October 1983, a ten year old boy was abducted from a carnival in Pima County, Arizona, and molested and sodomized repeatedly for over an hour by a middle aged man. The victim was taken to a hospital, where the staff collected semen samples from his rectum as well as the clothing he was wearing at the time of the assault. Based on the boy's description of the assailant as a man with one disfigured eye, Youngblood was charged with the crime. He maintained his innocence at trial, but the jury convicted him, based largely on the eyewitness identification of the victim. No serological tests were conducted before trial, as the police improperly stored the evidence and it had degraded. Expert witnesses at trial stated that, had the evidence been stored correctly, test results might have demonstrated conclusively Youngblood's innocence. Larry Youngblood appealed his conviction, claiming the destruction of potentially exculpatory evidence violated his due process rights, and the Arizona Court of Appeals set aside his conviction. He was released from prison, three years into his sentence, but in 1988, the Supreme Court reversed the lower court's ruling, and his conviction was reinstated (Arizona v. Youngblood, 488 U.S. 51). Youngblood remained free as the case made its way through the Arizona appellate court system a second time, but returned to prison in 1993, when the Arizona Supreme Court reinstated his conviction. In 1998, Youngblood was released on parole, but was sent back to prison in 1999 for failing to register his new address, as required by Arizona sex offender laws. In 2000, upon request from his attorneys, the police department tested the degraded evidence using new, sophisticated DNA technology. Those results exonerated Youngblood, and he was released from prison in August 2000. The district attorney's office dismissed the charges against Larry Youngblood that year. In 1990, the FBI established its database containing genetic profiles from unsolved crimes and from convicted offenders. In October 1998, the FBI's National DNA Index System (NDIS) became operational. The database is the (CODIS) Combined DNA Index System, a computerized forensic database of DNA “profiles” of offenders convicted of serious crimes (such as rape, other sexual assaults, murder, and certain crimes against children), as well as DNA profiles from unknown offenders. CODIS generates investigative leads in crimes where biological evidence is recovered from the crime scene using two indexes: the forensic and offender indexes. By 1998, every state had enacted legislation establishing a CODIS database and requiring that DNA from offenders convicted of certain serious crimes be entered into the system. Today, the CODIS database contains about 400,000 DNA profiles, and the number is growing. CODIS is implemented as a circulated database with three tiers - local, state, and national. NDIS is the highest level in the CODIS hierarchy, and enables the laboratories participating in the CODIS Program to exchange and compare DNA profiles on a national level. All DNA profiles originate at the local level (LDIS), then flow to the state (SDIS) and national levels. SDIS allows laboratories within states to exchange DNA profiles. The tiered approach allows state and local agencies to operate their databases according to their specific legislative or legal requirements. It is being enhanced daily through the work of federal, state, and local law enforcement agencies who take DNA samples from biological evidence gathered at crime scenes and from offenders themselves. The computerized CODIS system can rapidly identify a perpetrator when it finds a match between an evidence sample and a stored profile. As of 2003, the database had profiled approxminaly 66,000 unsolved cases and more than 1.5 million convicted offenders. Matches made among profiles in the Forensic Index can link crime scenes together; and even identifying serial offenders. Based on a match, police in multiple jurisdictions can coordinate their respective investigations, and share the leads they developed independently. Matches made between the Forensic and Offender indexes provide investigators with the identity of the perpetrator(s). After CODIS identifies a potential match, qualified DNA analysts in the laboratories contact each other to validate or refute the match. Everyone benefits from having a national DNA database and DNA information has helped many victims, families and people who were either the victim of a crime or victimized by the criminal justice system and wrongfully convicted. The DNA database provides a very large resource which provides a conclusive way to show whether or not someone had anything to do with a crime. The database has also closed thousands of cases which would have otherwise gone unsolved indefinitely.

DNA Testing - Are You Raising Someone Else's Child?

Paternity Testing – Are you raising someone else’s child?
Back in the 1700s, the best way to determine paternity was by a good hard look at the child, followed by a good hard look at the father. Enough coincidences and maybe a relationship could be proposed. A hundred years later, eye colour was discovered to be a paternity identifier. This theory has had its flaws exposed because of recent DNA advances. We now know that eye colour is determined by at least six alleles, or genetic markers. Paternity testing has become a lot easier and affordable over the past few years due to advances in DNA science. Although an estimated 200,000 DNA tests are conducted each year by states needing to sort child-support and welfare issues, few people are willing to conduct their own at-home paternity test because they don’t realize the simplicity and convenience of an at-home paternity test.
How does a home DNA test work?
Paternity testing requires a painless sample from both the child and possible father. Even without a sample from the mother, DNA paternity test results are up to 99.9999% accurate–that’s one-in-a-million odds your results are incorrect. Most companies provide a free home kit for you to provide the samples and require you to send the kit back to the laboratory with the accompanying fee.
Because many companies are aware of the discomfort of drawing blood from a child in order to get a sample, buccal (mouth) swabs are being accepted as an alternative. By gently massaging the inside of the child’s mouth, cheek cells are collected. These cells are then sent to the lab for testing. Labs analyze up to sixteen genetic markers of the child and match them against the markers of the alleged father. Because each of us receives half our genetic markers from each parent, the results of DNA paternity testing are still accurate without the DNA information of the mother. Most labs will have results in 10 days and charge about $290 for a basic paternity verification test.
What else can a DNA test do?
DNA kits can also be used to analyze siblingship, establish cousin or grandparent relationships, determine twin zygosity (i.e. whether twins are fraternal or identical), identify ancestral origin, verify Native American decent, assure parents they left the hospital with the right baby, and most important, provide legal evidence – be prepared to pay a bit more for legal tests. Legal tests can be used to settle adoption issues, settle child-support disputes, and provide information for immigration files.
How to choose a DNA laboratory
Accreditation is a vital part of choosing a laboratory. Accredited labs have an annual audit and inspection, undergo internal and external reviews, and have their equipment calibrated for accuracy. Look for an ISO and/or AABB certification. Accredited labs will have a good reputation and near 100% track record for court cases.
Look for hidden fees. Some companies will charge you for the kit and then charge you again for the results. Also, double check when you order your kit that you’re only buying the results you need.
Ask about privacy. Make sure that your identity and intentions are kept secure.
Enjoy piece of mind
Be confident that the questions you have can be answered. DNA testing is safe and stress-free. Find a free kit and an information packet and you’re on your way to getting the piece of mind that you deserve.

Our Dreams Are Our DNA

Take biology for instance. I never took a biology course in my life. I really have no idea how my body works, and yet I remain in good health. But when I visit the doctor, it’s the same as visiting an auto mechanic or a computer technician. They ask a few questions, and then tell me it sounds like a problem with the gobbly-gook. I nod my head, as if I know what they’re talking about, and then leave more confused then ever.
So, you could imagine my horror when my son comes up to me and says, “Daddy, what’s DNA?” I had no clue. The only people that really care about it are the lawyers, the researchers and the people on CSI. I figured it had to stand for something, and I knew two things about it from watching television: it’s all over our body, and it’s unique for every body.
So, I gave him my “Daddy knows best” look and said, “Eric, it’s an abbreviation. It stands for…Dreams Needing Attention.” His face lit up and he went to the phone to tell all his friends about his new found knowledge. Then my wife came up, and said, “Hold on Eric. I decided to Ask Jeeves, and he said DNA stands for Deoxyribo Nucleic Acid.” Silly Jeeves. So, I told my son that was the Latin equivalent for Dreams Needing Attention.
But if you think about it, my answer made perfect sense. Our dreams are our DNA. DNA is all over our body, and it makes us unique. So do our dreams!
My feet have dreams to run with Olympic speed. My hands have dreams to write another best-seller…or two. My eyes have dreams of seeing a summer without any road construction! And our hearts have dreams. Why else would the Internet become the world’s largest dating service?
Sure, some of us share similar dreams. Other people also want to write a few best-sellers. But, when we look at the big set of our career dreams, our relationship dreams, our fun dreams and our other dreams, we are each unique in that large set of dreams.
So, DNA is all over our body, and it makes us unique. The thing is that when we’re young, we have huge dreams. We want to cook like Martha Stewart, even if we don’t know how to turn on the oven. The gap between our reality and our dreams is huge. As we grow older, we should be closing the gap to make these huge dreams come true. But instead, we pay attention to the dreams that are much closer to reality.
Our big dreams haven’t gone away, we’re just not paying attention to them. They’re still in our feet, our hands, our eyes and our hearts.
Adults don’t seem to think dreams come true, but they do. Dreams come true everyday. When you get up in the morning, you dream about getting to work on time. (For some this is a bigger dream than for others) At the beginning of the year, your sales manager will present a sales dream for the year. (sure, he might call it a target, or a goal, or an objective) Then the sales team works to make that sales dream a reality.
On a smaller scale, each day, you go about spending your time and money trying to make your dreams come true. The dreams you focus on will create your reality. If you’re focusing on sales of one mil.lion per year, you’ll probably get different results than if you’re focusing on sales of ten mil.lion per year.
To change your reality, change the dreams that you’re paying attention to.
If you pay attention to the dream of making it through the day, then that will be your reality. If you pay attention to the dream of becoming the person your DNA wants you to be, then your reality will go in a whole new direction.
We’re not put on this planet to settle. We’re put here to shine.
Your reality in the upcoming weeks, months and years will depend on the dreams you pay attention to today. Ask yourself what reality you want for yourself, then pay attention to the dreams that will get you there!

DNA Genealogy

The next time you are watching your favorite CSI TV show or a particular movie and stumble into the fascinating world of DNA, you might be surprised to know that our DNA can do more than identify a suspect or victim at a crime scene. In fact, DNA is now being used to identify ancestors in the new and exciting field of DNA Genealogy.
DNA Genealogy takes traditional genealogy and applies genetics to it. DNA Genealogy involves the use of genealogical DNA testing to determine the level of genetic relationship between two individuals (Genealogical 2005). DNA, deoxyribonucleic acid, is used in the process because of its unique nature and the fact that it is passed down from one generation to the next. In the passing, some parts of the DNA remain almost completely unchanged, while other parts change dramatically. This property allows for the identification of certain consistencies between generations and provides the ability to identify genetic relationships.
There are two types of DNA tests available for testing DNA Genealogy: Mitochondrial DNA (mtDNA) and Y-chromosome DNA tests.
Mitochondrial DNA (mtDNA) is found in the cytoplasm of the cell instead of in the nucleus as is Y-chromosome (Tracing 2003). mtDNA is passed by a mother to both her male and female children without any additions or mixing from the father. Therefore, your mtDNA is the same as your mother’s mtDNA. mtDNA is different in nature compared to Y-DNA. It changes slowly making it more difficult to determine close relationships and easier to determine relatedness. If two people have the same mtDNA, there is a very good chance that they also share a common maternal ancestor. Unfortunately, it is difficult to determine if that common maternal ancestor was recent or instead lived hundreds of years ago.
Y-chromosome tests have been used more and more recently to determine DNA Genealogy. The Y-DNA tests are only available for males, because the Y-chromosome is only passed down along the paternal line from father to son. There are tiny chemical markers on the Y-chromosome that create a unique pattern. This pattern of markers is what is called a haplotype. A haplotype is used to determine one male lineage from another. This type of testing is often used to determine if two individuals who have the same surname share a common ancestor.
One of the early beginnings of DNA Genealogy was a study published by Bryan Sykes in 2000 (Sykes and Irven 2000) that used DNA Genealogy (Y-chromosome markers) along with surname studies to determine relatedness. The study compared 48 men with the same surname of Sykes from the regions of England and analyzed four Short Tandem Repeats (STRs) on their Y-chromosome: DYS19, DYS390, DYS391, and DYS393. The study found that of the 48 men tested, 21 had the same core haplotype and many others were only one mutational step away from the core haplotype. Skypes interpreted these results to reveal a common origin from an ancestor who lived some 700 years ago (Butler 2005).
Since its early beginnings, DNA Genealogy has come a long way and has grown rapidly. DNA Genealogy continues to increase in popularity as the price of tests becomes much more affordable and the number of markers and clarity of the tests become greater. Additionally, DNA collection techniques make it a very simple and pain-free process.
Butler J. (2005) Forensic DNA Typing; Biology, Technology, and Genetics of STR Markers, 74, 231-232.
Genealogical DNA test. (2005, December 7). Wikipedia, The Free Encyclopedia. Retrieved 21:52, December 8, 2005 from http://en.wikipedia.org/w/index.php?title=Genealogical_DNA_test&oldid=30489865.
Sykes, B. and Irven, C. (2000) American Journal of Human Genetics, 66, 1417-1419.

How Does My DNA Work?

The subject of DNA is very much in the headlines and news but very few have bothered to learn or understand just how this amazing molecule works and how it makes us what we are from head to toe. Haven't you ever asked yourself how you got your nose, eyes, ears, fingers, toes, and everything else? How did your DNA bring all this about? Before we answer that question we need to know just a few simple things about DNA.
DNA is the abbreviated name for the genetic code and it is exactly that - a code. It is a molecular string of chemical information.
DNA is located in the nucleus of our cells and is made up of smaller molecules called nucleic acids. These smaller molecules in DNA are arranged in a sequence, just like the letters in a sentence. The sequence of these nucleic acids tell the cells in our body how to build our nose, eyes, hands, feet, and everything else.
The material our body uses to build new cells comes from the food we eat. Food is not just for energy. Food is also the "lumber" and "bricks" the body uses to build new cells. When a cell multiplies it makes more cells of the same size. The only way to do this is by getting new material and that new material comes from food.
Think about it! When we were in our mother's womb we started off as a single cell not even weighing an ounce at conception. Eventually we developed arms, hands, legs, feet and organs such as brain, heart, lungs, liver, stomach, until we had a complete body. It's true that the single cell we once were multiplied into many more cells, but where did the material come from for that one cell to multiply into billions of more cells of equal size and eventually making a body weighing several pounds from something that didn't even weigh an ounce in the beginning. The material came from our mother's food.
When food is digested and broken down to its basic amino acids the various amino acids are then rearranged in a certain sequence to form cells that make up the various tissues and organs. What sequence these amino acids come together in is determined by the sequence of the molecules in DNA.
Remember, even after all our organs are formed the cells that make up our organs are continually dying and need to be replaced. Again, the material to make more cells to replace the ones that are dying comes from food.
Thus, when you feed your dog a T-Bone steak your dog's DNA will make sure that steak is digested and rearranged to form the various parts of your dog, but when you eat the same steak your DNA will make sure that the steak is digested and rearranged to form human parts.
The sequence in DNA differs from individual to individual and from species to species. For an analogy think of a library where all the books are in one language. In the library there are different books on different topics and subjects. All the books share the letters from the same alphabet, but the sequence in which these letters are arranged are different from book to book. The sequence of the letters makes the difference between a book on chemistry and a romance novel!
When scientists study genes they are studying segments of the DNA molecule. The goal of the human genome project was to locate where the various genes are on the DNA. Only in this way can we begin to understand how to use genetic engineering to correct various genetically caused disorders and maladies. Faulty genes arise from mutations. Mutations are accidental changes in the sequence of the genetic code caused by radiation and other environmental forces. Most biological variations, however, are not from mutations but from new combinations of already existing genes.
Because they are accidents in the genetic code, almost all mutations are harmful. Even if a good mutation does occur for every good one there would be hundreds of harmful ones with the net effect over time being harmful, if not lethal, to the species as a whole.
Evolutionists hope that with enough time and with enough mutations new genes for entirely new traits will be produced leading to the evolution of new biological kinds. There is no evidence that this can happen from accidental changes in the sequence of the genetic code, anymore than it's possible to change a romance novel into a book on chemistry by accidental changes in the sequence of the letters.
At the very best mutations can only produce new varieties of already existing genes or traits, but not new genes or new traits. For example, mutations in the gene for human hair may change that gene so that another type of human hair develops but the mutations won't change the gene so that feathers or wings develop!
No one has shown that DNA can come into existence by chance! It takes DNA to get DNA! Yes, the individual molecules that make up DNA have been shown to be able to come into existence by chance. But, it has never been shown that those individual molecules can come together into a sequence by chance to form the genetic code.
Science cannot prove the existence of God but the scientific evidence shows that DNA, life, and the universe are not here by chance. For more information on this please read my other articles and, especially, my essay "The Natural Limits of Evolution" at my website www.religionscience.com.
Sincerely, Babu G. Ranganathan (B.A. Bible/Biology)

DNA Takes Over Where Paper Leaves Off

Paper documentation only goes back so far but the genealogy bug knows no bounds. If we traced our family tree back fifty generations, we would always be curious about the fifty first. Knowing that the paper trail has to end somewhere, the only real alternative we have is our DNA. Each person carries a map inside of their cells, a map that shows where your family came from on Earth. Through a series of markers, geneticists can tell the path your family has taken over time. Although the information is somewhat vague, DNA is an excellent way to prove your ethnicity. DNA testing is somewhat expensive, around $100 for a simple test, but it can pinpoint a few key items. Men can determine where their male ancestors were from through a marker passed from father to son. Men can also determine where their female ancestors came from through a marker passed from a mother to her children. However, women do not have this marker from their father. This is one of the main confusions with DNA testing for genealogy purposes. A man's markers can tell where the Jones family came from because each father and son was a Jones. Women have the disadvantage of losing their last name when they get married. Mrs. Jones' mother was a Smith and her mother was a Williams, etc. We cannot say that any of these last names came from a specific area because they keep changing through marriage. It is therefore necessary that a man take a DNA test to prove the origin of the family's last name. Genetic testing can help solidify family ties when no paper documentation exists. For example, there are lots of Lett families around the country and we did not know how they all fit together, at least not until DNA testing came around. After having one Lett male from each line tested, we could see whose DNA matched and whose did not. We were able to see migratory patterns in the family where paper did not exist. It also helped us to separate out various spellings. There used to be confusion over which families in old documents were Letts and which were Lotts, an unrelated group. Now we have a better idea of where those families lived and who were their members. We have a much lower risk now of confusing Letts and Lotts.

10 Mart 2008 Pazartesi

Secret DNA Test - 5 Steps To Know Before You Start DNA Testing

Paternity test could be done much simpler when DNA samples were secretly obtained from other persons' personal belongings such as toothbrush, comb and bandages.
It sounds sneaky to obtain other persons' DNA samples by this methods but these methods are best way of getting DNA samples for DNA testing without upsetting or unnecessary provoke other persons.
How do we get the samples of DNA of other persons?
Step 1 - Look out for the toothbrush...
Discreet samples from the toothbrush or used bandaged can be sent to distinctive DNA testing centers but earlier it must be put in the large or regular envelope. Seal the envelope tightly with cellophane tape or paper glue. The best DNA test results are normally obtained from toothbrush.
Step 2: Locate suitable DNA testing center
Find one suitable DNA testing center to have the DNA sample analyzed for accurate results. Choose any DNA testing center according to your desirable locations. If you could not find any one of these centers in your area, try to look out for one via internet search.
Most of the DNA testing centers offer free DNA testing kits that available for people from all over the world. In this case, you will be charged for a small fee for postage fees. The results will be sent to you via mail, email and phone.
Make sure you read the terms and conditions of the chosen DNA testing center to clarify the agreement between the DNA testing center and their clients. It is advisable that you should have the habit of reading and understand the terms of conditions of the company's service before you make a decision.
Step 4: Start "Window Shopping"
"Window-shopping" for DNA testing centers is a must because DNA testing is indeed a competitive market and most of these DNA testing centers have already started to have promotional packages that give discounts to their first and frequent clients.
Hence, DNA testing is getting simpler and fast because of the improving cutting-edge DNA testing technology.
Step 5: Educate yourself about basics of DNA testing
You need to have some brief understanding on how DNA testing actually works. Basically, there are several methods in DNA testing in determining various kinds of relationships such as paternity test, siblings test, ancestry DNA test, and also twin zygosity test.
You will encounter some biological terms in your DNA testing report and do not hesitate to ask DNA testing consultants for questions.
When you have familiarized with all of these five steps above, start taking DNA sample secretly and send it to your preferable DNA testing center as soon as possible.

Is It Safe To Have Personal DNA Testing?

Getting your own DNA make up has created a fad among health-concern societies. Basically, one of the main purpose for a person who wants to have his DNA analyzed, is just to find out whether he needs to have to take any health precautions. Highly sensitive testing has been discovered to track down the probability of disease to occur. It sounds like it is some sort of a disease prediction and seems to be true - as we called it as "Genetic Horoscope".
Most of the DNA Testing centers provide personal testing services for public but it has also raised doubts about the reliability of testing. Is it safe to have our personal DNA tested as we fear that our results might slip into wrong hands?
This is an ongoing dispute which is involves several people in and out of law enforcement. In terms of practicality of the testing service, several investors have invested millions in improving the research of testing technologies and products that could solve larger problems concerning other than health issues such as forensic science, paternity testing and ancestry search.
This might probably weighing down criticisms against personal DNA testing. In addition, price of testing will be reduced due to competition that make it more affordable and cheaper service rates for public. It better that we succumb to the privacy issues as testing requires mass submission of DNA samples into the database. Certainly, problems such as mass submission of samples could slow down the process of investigation of misdemeanors.
As all human makes mistakes - we learn from the mistakes as systematic DNA database establishment is depends on public cooperation. It is vastly depends on public involvement to produce a well-organized DNA database.
A well established DNA database can upgrade our quality of our lives as it is relying on comparison and analysis of all of our DNA sequences in pursuance of unlocking the hidden truth in our genes. Every new discoveries is a lead to a new solution - so as testing. Having a personal testing is safe although it has contrary views from various fields of people. It can be much safer if it is well regulated by prioritizing better health and ethics system.
It is not like a donation - you do not donate your own DNA. Your DNA will be eliminated once the test are run. Optionally, you can also opt for secure DNA storage. It can be destroyed upon your request. Start making an internet search on testing centers. Spend some time on their terms and policies. Please clarify about it with their consultants. Most of the times education does pay in order to have a safe DNA testing.

How to Order a Legal DNA Test

Legal paternity testing offers legal proof-of-paternity/non-paternity for a variety of legal applications, including divorce and custody cases, birth certificate changes and visa applications.
If both legal and personal tests offer the same DNA evidence, what is it that makes a legal test legal?
The collector.
As an independent party to the case, the appointed DNA collector ensures that each participant is properly identified, witnessing the collection of each sample much like a notary public witnesses and collects a signature. The collector is responsible for mailing samples directly to the lab - eliminating the possibility of any tampering or contamination by participating parties.
DNA Worldwide is one of a select group of labs accredited by both the AABB and ISO 17025 standards bodies, the organizations responsible for monitoring the legal DNA testing process. The collection process and materials used are subject to strict AABB/ISO guidelines.
DNA Worldwide receives and processes the samples, notifying participants according to their requested method as soon as results become available.
As always, DNA Worldwide's Client Services representatives are available to provide assistance with this- or any other - testing process. Our goal is to make the entire procedure as smooth and painless as possible, for our clients.
The Collection Process*
DNA Worldwide provides the collector with a complete legal DNA collection kit, which includes the following forms and collection materials for each participant:
*Chain-of-custody forms *Pre-addressed air bill *Swabs/Envelopes *Instructions *Plastic bio-hazard bag
The list of all identification and documentation requirements includes government-issued photo identification (for parents/guardians - tested or not), birth certificates (for dependents), and - if applicable - proof-of-guardianship.
The collector reviews all identification and documentation, and - along with all participants - signs and dates photocopies of each. Each participant signs and dates the completed chain-of-custody form, which the collector certifies with their signature. Sample collection is completed in the collector's presence, after which test swabs are sealed in their respective envelopes, and--together with the completed documentation - are submitted to DNA Worldwide's lab for testing. Collectors are encouraged to use our Legal Test Collectors' Hotline 0845 2571217 for help with ordering and collecting a legal DNA test.

Effect Of Food On Dna

Food has tantalizing effect in human history as in the start of the human evolution. Each individual has gene variation in which the protein sequences are affected and most likely, the nutrient requirements, the likeliness of disease are varied to the appropriateness of the genetic makeup in oneself. Nutrigenomics is the term used for the study of genes and nutritional requirements. It has been found that food can interact with single nucleotide polymorphisms (SNIPs) in our DNA and activate certain genes.
For example, eating shrimp can cause skin allergy while assuming broccoli that is rich in anti cancer properties can activate detoxification.
Grapefruit has naringenin, a flavonoid rich in anti-cancer properties and induce DNA repair on affected cancer cells. The activation of naringenin will stimulate the Base Excision Repair (BER) cellular mechanism in DNA replication stage. The cancer preventive agent also rich in anti oxidant properties and could lower down cholesterol level in blood by 15%.
Sodium benzoate is a common preservative that is found in processed soft drinks to add flavoring. When tested on DNA of yeast, it could inactivate the DNA in mitochondria completely and later the cell malfunctions completely. Another study tied the preservative to neuro-degenerative diseases like Parkinson's and also the aging process.
Tocotrienols, the less studied of Vitamin E, may reduce DNA damage in cancer development by 50 percent. This important finding is related to oxidative stress and quenching of oxygen species by Vitamin E.
Eating kiwifruit can be a preventive measure against cancer as it can improve the DNA repair after peroxide is induced for cell damage. In one sense, the concept of nutrigenomics is already applied in modern medicine. Consider phenylketonuria, for example.
Infants with mutations in the PAH gene, which leads to impaired metabolism of phenylalanine, are fed a low- or no-phenylalanine diet for much of their childhood and usually into their adult life. Many other genes for simple metabolic disorders are tested in standard newborn screening assessments.
Most diseases, however, are much more complex. Advancing nutrigenomics for these diseases, and for overall health, will require dedicated, focused studies in genetics and epigenetics, as well as increased understanding of how genes, proteins, and epigenetic changes interact within networks and pathways.