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Using DNA to Examine James Madison’s Family Tree

imageAccording to a 200-year-old family legend, Bettye Kearse – an African American – is the direct descendant of James Madison.  Madison, of course, was a founding father and fourth President of the United States.  As the story goes, he fathered a child name Jim with a slave cook named Coreen.  For the past 4 years she and genetic genealogist Bruce Jackson of the Roots Project have tried to use DNA to prove or disprove a story passed through 5 generations of the family.

Unfortunately, Kearse and Jackson have been unable to obtain DNA samples from Madison’s descendants, stating that they have been “neither sincere nor forthcoming in this effort.”  The president of the National Society of Madison Family Descendants, Frederick M. Smith, cited confidentiality concerns and declined to comment.

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The Confucius Genealogy Compilation Committee Rejects DNA Testing

iStock_000002679865XSmallSee the new article at Seed Magazine “Inheriting Confucius,” which discusses efforts to generate a family tree containing the 2 million+ descendants of Confucius.

Kong De-Yong, a 77th(!) generation descendant of Confucius, has been compiling the tree for the last 10 years.  Although the Committee is accepting submissions from women and other previously excluded groups, it is not accepting DNA contributions.  According to the article, this “hints at the limits of Chinese engagement with the age of genomics, and demonstrates how high cultural stakes can constrain science.”  Unfortunately, as the author of the article suggests, many people might be afraid of the results of such DNA testing: “Given the potential implications of genetic knowledge for long-presumed members of the [Confucius] family, they think it better not to know.”

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Interesting News in the World of Genetic Genealogy

Genetic Genealogy

Technology Review, an MIT publication, has an article entitled “Genealogy Gets More Precise: Rapidly growing databases enable a more complete picture of one’s ancestry.“  The article, which is relatively balanced, discusses some of the benefits and challenges associated with genetic genealogy testing.

Also check out the article and video “Mapping Out a Nascent Market” at boston.com, which is directed towards personal genetic companies such as deCODEme, 23andMe, Navigenics, and Knome.

And lastly, scientists have sequenced and recreated the Neanderthal mtDNA genome.  For more information see john hawks weblog, Genetic Archaeology, Genea-Musings (with a humorous twist), Anthropology.net, and The Spittoon.  The original article is in Cell.  Turns out there are roughly 206 differences between the CRS (the Cambridge Reference Sequence, the mtDNA to which all human mtDNA is compared) and Neanderthal mtDNA; 195 transitions and 11 transversions.

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The Summer 2008 Genea-Blogger Group Games

I’ve decided to join the 2008 Genea-Blogger Group Games (see here for more info).  I’m a little late, but the organizers have decided to allow entrants until tonight at 9:00pm PDT.  The Opening Ceremonies were held on Friday.  I’m hoping to put a genetic genealogy twist on my entries, if possible, to highlight how genetics can augment traditional genealogical research.

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The categories I plan to participate in are:

  • Back Up Your Data!
    • A. Prepare a comprehensive backup plan for your digital research files and a security plan for your hard copies and photos
    • C. Backup all your data using a flash drive, an external drive, CDs, DVDs, or an online resource
    • E. All your data is backed up digitally and secured physically and you can recover from any disaster while losing only one month or less worth of research

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Are Disease-Causing mtDNA Mutations Common?

image Genetic genealogy has the potential to reveal information about your health (for example, DYS464 can reveal infertility and sequencing of the entire mtDNA genome can reveal mutations that are suspected of being associated with certain disorders).  Although I usually don’t consider this possibility to be serious enough to discourage genetic genealogy testing, I do believe that people should be aware of the possibility before being tested.

A new study in the American Journal of Human Genetics (available here) examined the frequency of ten (potentially) pathogenic mitochondrial point mutations in 3168 neonatal cord blood samples.  Of these samples, a total of 15 (or 1 in 200) harbored one or more of the mutations.

Interestingly, the mtDNA of 12 of the 15 samples were heteroplasmic, meaning that their cells harbored both mutated and non-mutated mtDNA genomes.  Figure 1 from the paper, above, shows the percentage of mutated mtDNA in each of the 15 samples with mutations, from nearly 0% to the 100% in the three homoplasmic samples.

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Genetic Genealogy Patents – A Brief Review

Yesterday, DNA Heritage issued a press release (reproduced below) regarding an opinion issued by the UK Intellectual Property.The opinion (available here) was the result of inquiry into whether claims 4-7 of a 2004 patent in England are valid.The patent, held by Bryan Sykes of Oxford Ancestors, was issued in 2004 and is directed at creating and using a database of Y-DNA haplotype information to examine surname relationships and determine the likelihood of common ancestry between individuals.The UK IPO’s opinion holds that the claims are invalid because they are either not novel, or did not require an inventive step (i.e., they were obvious).Most intellectual property offices, such as those in the UK and the US, require that an invention at least be novel and nonobvious.

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TGG Interview Series IX – Ana Oquendo Pabón

image The ninth and final edition of the TGG Interview Series is with Dr. Ana Oquendo Pabón.  Dr. Oquendo Pabón is DNA and Historical advisor to the Lost Colony DNA and Research Group, and is an Administrator or Co-Administrator to numerous DNA projects.  Her bio is can be seen here.

In the following interview, Dr. Oquendo Pabón discusses her introduction to the field of genetic genealogy, her own experiences with genetic testing, and her thoughts about the future of genetic genealogy.  It’s a terrific interview, so read on.

TGG: How long have you been actively involved in genetic genealogy, and how did you become interested in the field?

Ana Oquendo Pabón: I have been involved in genetic genealogy since very early in 2003. My brother and I have been traditional genealogists for about 28 years. Due to the excellent records on the island and hard research, we had long known all of our 64 grandparents except for one and all except 4 or 5 couples of our 128 ancestors. I had been keeping track of the news online concerning the “new science” and unique way of tracing your ancestral roots. I think everyone had heard about the Thomas Jefferson and Sally Hemmings story by that time. I had also read about a particular genealogist named Bennett Greenspan’s own amazing quest to confirm his paternal DNA with an individual in Argentina and how he had started a genetic testing company to help others accomplish what he had done using yDNA. In 2003, I decided to give my brother a DNA kit as a combined birthday and anniversary present. We were among the first ten thousand genetic genealogy pioneers to take advantage of this new way of research. This spurred the idea of helping others in our field of expertise which was the genealogy of Puerto Rico and the Puerto Rican Project (Proyecto ADN de Apellidos Puertorriqueños) was born.

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TGG Interview Series VIII – Max Blankfeld

image The eighth edition of the TGG Interview Series is with Max Blankfeld.  Max is Vice-President of Marketing and Operations at Family Tree DNA, one of the largest genetic genealogy companies in the world.  In addition, together with Bennett Greenspan, Max launched DNA Traits, a company that tests DNA for genetic diseases and inherited conditions.  Max is a frequent contributor to genetic genealogy mailing lists and has answered many people’s questions about testing, results, an the field in general.

From the “About” page at Family Tree DNA:

“Originally from Brazil, received his BBA from Fundação Getulio Vargas, and MBA from Rice University. While his first college education was in the field of Aeronautical Engineering, he gave it up to become a foreign correspondent. After that, he started and managed several successful ventures in the area of public relations as well as consumer goods both in Brazil and the US.”

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The Tenth and Final PGP Volunteer is Revealed!

image Thomas Goetz has written another terrific article about genetic testing and the Personal Genome Project.  This article, entitled “The Gene Collector,” appears in Wired Magazine.  The article provides some new information about the PGP, including some of the incredibly detailed phenotype information that will be collected from the next 100,000 volunteers in the project.

The article also reveals the tenth and final participant of the “First 10″, the original 10 volunteers in the PGP.  I wrote about the first nine volunteers in the PGP almost exactly one year ago and noted that the tenth participant had not yet released his or her name.  The Wired article, however, mentions a number of participants including George Church, Esther Dyson, Rosalynn Gill, John Halamka, and Steven Pinker.  Indeed, a check of the PGP website confirms that Steven Pinker is the last PGP volunteer to be identified.

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