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Lessons Learned From a Genetic Genealogy Quiz

On April 9th, 2008, I posted a quiz about genetic genealogy here on the blog. (If you haven’t taken the quiz yet, it is available here; it only requires a few minutes and might make the following analysis more clear and personally relevant). I created and posted this quiz because I thought it was a fun way to interact with my readers, and because I thought it was educational material to share with others.

As readers began to take the quiz, I realized that there was valuable information contained with the results. The following is an analysis of those results with a few preliminary conclusions. As I proceed, don’t feel bad about missing any of these questions, since this isn’t meant to be a critique of any single individual (especially since individual … Click to read more!

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Kwäday Dän Ts’ìnchi – "Long-Ago Person Found"

image Around the year 1700, a relatively healthy young hunter was walking along a glacier in land that would one day be British Columbia in Canada. He wore a robe of 95 animal skins, perhaps gopher or squirrel, stitched together with sinew, and carried a walking stick, iron-blade knife, and spear thrower. For some reason, the young man, aged 17 to 22, died on the glacier and was quickly incorporated into the ice. There he remained, frozen, for the next 300 years.

In August 1999, three hikers noticed a walking stick, fur, and bone lying on a melting glacier (60′ N 138′ W). The young hunter, renamed Kwäday Dän Ts’ìnchi in the Southern Tutchone language of the Champagne and Aishihik First Nations, was removed by scientists for analysis (see the NY Times article, and the Journal of Canadian Archaeology article). From an article … Click to read more!

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DNAPrint Genomics and a New Roots Television Video

Megan Smolenyak Smolenyak recently wrote “I’m a Euro-Mutt!” about the results of her AncestrybyDNA EuropeanDNA 2.0 test (from DNAPrint Genomics). Megan found that the results of her test were both expected and surprising! From DNAPrint Genomics’ website:

DNAPrint® Genomics’ powerful new EuropeanDNA 2.0 product, further elucidates European sub-ancestry using 1,349 European Ancestry Informative Markers (SNP AIMs). This test reports a customer’s proportional basic continental European ancestry: Southeastern Europe (SEE – Armenian, Jewish, Italian and Greek), Iberian (IB -Spanish, Portuguese), Basque (BAS – Spanish/French Pyrenees border), Continental European (CE – German, Irish, English, Netherlands, French, Swiss and some Italian) and North Eastern European (NEE – Polish, Baltic, Swedish, Norwegian, Finnish, Russian) ancestry.

For the newbies, this test examines autosomal DNA, which is DNA other than the sex chromosomes and mtDNA. These types of tests will become much more popular as SNP testing and genomic sequencing become cheaper and more widespread.

Roots Television

Have you visited Roots Television lately? Don’t forget that the DNA Channel is available here at TGG (click the Roots Television – DNA Channel button above). Currently featured (under “DNA Testing”) is an interview with Rick Kittles, the co-founder of African Ancestry and a well-known name in the genetic genealogy … Click to read more!

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Human mtDNA Diversity Before Migration Out of Africa

image Yesterday, a very interesting paper was published in the American Journal of Human Genetics by the Genographic Project Consortium entitled “The Dawn of Human Matrilineal Diversity.” The results of the study, which examined the 624 mtDNA genomes from sub-saharan Haplogroup L lineages, suggests that humanity once split into two small groups with one group in eastern Africa and the other in southern Africa, and that humanity bottlenecked into a relatively small number of individuals (as few as 2,000 based on results from a previous study). Note, as always, that these are hypotheses based upon the results of this and other studies, and will require further research to support or refute.

Two mtDNA Branches

The human mtDNA tree has two main branches, the L0 branch which includes individuals … Click to read more!

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Finally, GINA Gets Her Day

iStock_000005432570XSmall On April 27, 2007, I wrote “GINA: A Primer“, which was an introduction to the Genetic Nondiscrimination Act. Today, nearly a year later, the bill will most likely be voted on and passed by the Senate, the last step before being handed over to President Bush to sign into law (which he has indicated that he will do). As I wrote last April:

“GINA aims to protect individuals in a variety of different areas. The legislation would prohibit access to genetic information by insurance companies and would prohibit insurance companies from discriminating against an applicant based on genetic information, the refusal to submit genetic information, or for have been genetically tested in the past. Additionally, the Act would prohibit employers from using or collecting genetic information to make employment decisions. The Act also establishes a Genetic Nondiscrimination Study Commission that is charged with reviewing new developments in the field of genetics and advising Congress.”

This bill is considered by many to be an important first step in providing protections against the misuse of recent and future developments in genetic sequencing and analysis technology.

There is a great deal of information about today’s vote:

There is also some very recent information from the Center for American Progress entitled “Genetic Nondiscrimination: Policy Considerations in the Age of Genetic Medicine” (full pdf report here).  The Center (which I am not familiar with) also has a … Click to read more!

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Genetic Genealogy, Public Databases, and Criminals

The Washington Post has an article entitled “From DNA of Family, a Tool to Make Arrests” about using DNA obtained from family members to search DNA databases or identify relatives as criminals. Here is a summary of the issue from a recent Columbia Law review article available here (pdf):

For years, law enforcement personnel have compared DNA found at crime scenes with that of a convicted offender. Recently, a new technique has
begun to focus on the genetic similarity of biological relatives. Now, if a crime scene sample partially matches the DNA profile of a previous offender, law enforcement can investigate and possibly arrest that person’s family members. This process is called familial DNA testing and will significantly increase the amount of genetic information contained in the FBI’s Combined DNA Index System (CODIS), which consolidates local, state, and federal DNA databanks into a uniform body of data.

Hank T. Greely, a law professor at Stanford, is mentioned late in the article. Mr. Greely is an expert on this topic and has written a number of articles including “Family Ties: The Use of DNA Offender Databases to Catch Offenders’ Kin” (34 J.L. Med. & Ethics 248, 250–51 (2006)). Mr. Greely has argued, as have others, that this type of testing will disproportionately affect minorities such as African Americans because every year “more than 40 percent of people convicted of felonies in the United States are African American.” As Greely points out in the Washington Post article:

“If the national database were used for familial searching, he said, and assuming that on average each person whose profile in the database has five first-degree relatives, authorities would be “putting under surveillance” roughly a third of the African American population, compared with about 7.5 percent of the European American population, he said.”

Genetic … Click to read more!

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Tracing a 500-Year-Old Founder Mutation Using Genetic Genealogy

image In January I wrote about a study that traced a mutation in a single colon cancer gene to 1630. Today, researchers announced that a founder mutation in another gene, MSH2, has been traced to roughly 500 years ago (“Origins and Prevalence of the American Founder Mutation of MSH2” (pdf)).

MSH2 is a mismatch repair gene, and mutations in the gene results in Lynch syndrome, also known as hereditary nonpolypsis colorectal cancer. Lynch syndrome accounts for 2.8% of all colon cancers in the Western world, with 4,500 cases a year in the U.S. One specific mutation in MSH2, the deletion of exons 1 through 6, was named the American Founder Mutation (AFM) and was identified in nine families. Previously, research had suggested that the mutation in the MSH2 gene had been brought to Pennsylvania by German immigrants in the early 1700’s.

AFM More Prevalent … Click to read more!