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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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TGG Interview Series VII – Katherine Hope Borges

image The next interview in the TGG Interview Series with members of the Genetic Genealogy field is with Katherine Hope Borges.  Katherine is the Director of the ISOGG, the International Society of Genetic Genealogists.  In June of last year, I highlighted a video interview with Katherine done by Roots Television.

In addition to the her work with the ISOGG, Katherine recently launched DNA Fund to provide scholarships and funding for DNA testing, which can often be expensive.

In the following interview, Katherine talks about her introduction to genetic genealogy as well as the launch of DNA Fund.

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

Katherine Hope Borges: I learned about genetic genealogy in 2003 from a speaker at a Daughters of the American Revolution (DAR) meeting.  The speaker, a DNA Project Administrator, shared her success in using DNA for genealogy so I decided to try it.  My father tested in May 2003 and I established a DNA project in October of the same year.

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The Genetic Mess in California – A Round-Up, and My Thoughts

On June 9, 2008, the California Department of Public Health sent cease and desist letters to 13 companies that offer genetic testing. According to the letters, the companies are in violation of certain sections of the Business and Professions Code of California, including offering “a clinical laboratory test directly to the consumer without a physician order” since such tests “must be ordered by a physician or surgeon” (according to these officials). Copies of the letters are available here. The companies receiving letters are:

  • 23andMe
  • CGC Genetics
  • deCODEme Genetics
  • DNA Traits
  • Gene Essence
  • HairDX LLC
  • Knome
  • Navigenics
  • New Hope Medical
  • Salugen
  • Sciona Inc
  • Smart Genetics
  • Suracell Inc

I’m entering this discussion late, although I’ve been watching with great interest. What I’ve noticed is that much of the discussion, both in the blogosphere and the media, is confusing or ignoring the fact that there are actually two questions involved here.

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Sequencing the Cacao Tree Genome

Although it’s not really genetic genealogy, this story was too interesting to pass up.

Mars food company announced on Friday that it is partnering with IBM and the Department of Agriculture to sequence and analyze the entire cocoa genome.Mars will provide more than $10 million and will make the sequencing and analysis results freely accessible through the Public Intellectual Property Resource for Agriculture.

Unfortunately for those of us that love chocolate, the cacao tree is under attack.According to an article in the Washington Post, “West Africa, which produces 70% of the world’s cocoa, has been hammered by bad weather in the past few years.”Additionally, the cocoa industry in Brazil has been almost completely destroyed by a fungus known as witches’ broom.

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TGG Interview Series VI – Ann Turner

Ann Turner has been a member of the genetic genealogy community since 2000, and during that time she has made great contributions to field (as will become obvious from her interview). According to her brief biography at the Journal of Genetic Genealogy:

Ann Turner is the founder of the GENEALOGY-DNA mailing list at RootsWeb and the co-author (with Megan Smolenyak) of “Trace Your Roots with DNA: Using Genetic Tests to Explore Your Family Tree.” She received her undergraduate degree in biology in 1964 and her M.D. from Stanford University in 1970. In recent years, she developed software for neuropsychological testing and wrote utility programs for the PAF genealogy program. One of these utilities provided a way to split out all people in a database who were related via their mitochondrial DNA, six years before mtDNA tests were commercially available. The inspiration for this feature came from the (then) forward-looking predictions of Dr. Thomas Roderick, now associate editor of JoGG.

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