Thereâ€™s a great recent article in Scientific American entitled â€œWhat Finnish Grandmothers Reveal about Human Evolutionâ€ highlighting the research of biologist Virpi Lummaa.Iâ€™ve mentioned before that while genetics is a useful tool for genealogical research, genealogy can also be a useful tool for genetic research!Dr. Lummaaâ€™s research does exactly that.
Dr. Lummaa used 200 years of genealogical records to study the influence of evolution on reproductionâ€
â€œThe 33-year-old Finnish biologist, aided by genealogists, has pored through centuries-old tomes (and microfiche) for birth, marriage and death records, which ended up providing glimpses of evolution at work in humanity’s recent ancestors.â€
Esther Dyson is a prominent force in the digital world, and is considered to be a member of the â€˜digeratiâ€™ (a term for people who are the movers and shakers of everything technological).She is the daughter of the famous physicist Freeman Dyson and the mathematician Verana Huber-Dyson.
According to Wikipedia, the company that Ms. Dyson founded, EDventure Holdings, analyzes the impact of emerging technologies and markets on economies and societies.In addition, Ms. Dyson is on the board of the genetics company 23andme.Her interest in genetics and emerging technology is undoubtedly one of the main reasons she has decided to become one of the â€œFirst 10.â€
The â€œFirst 10â€
The â€œFirst 10â€ (or â€œFirst Tenâ€) references ten volunteers who are part of the Personal Genome Project, or the PGP.The PGP, headed by Dr. George M. Church of Harvard, aims to develop affordable personal genome sequences as well as user-friendly data applications.Initially, the project will start by releasing the sequencing and complete medical records of 10 individuals.Because of issues of risk versus benefit and informed consent, the first set of ten volunteers will be people who have a â€œmasterâ€™s level or equivalent training in genetics or equivalent understanding of genetics research.â€According to the PGP website, â€œ[p]roduction costs per subject range from $8K for a limited subset of the genome to over $200K per subject to cover a significant fraction of their DNA.â€According to a recent New York Times article, the â€œprojectâ€™s volunteers will receive the one percent of their genome currently deemed most useful at a cost of $1,000.â€This conflicts with the PGPâ€™s description of the cost, and Iâ€™m not sure what the discrepancy is about.
Dr. Mark A. Jobling at the University of Leicester published a study in 2005 that examined DYS464, a Y-DNA marker commonly sequenced for genetic genealogical purposes.As it turns out, sequencing DYS464 can inadvertently detect an AZFc deletion.Deletion of AZFc (azoospermia factor c) causes spermatogenic failure and subsequently, male infertility.This marker is tested by at least 6 firms.
Dr. Jobling pointed out that a previous study had concluded that an AZFc deletion could be found in 1 in every 4000 males.In Dr. Joblingâ€™s study there were 3 cases in 3255 males tested, which he states is â€œnot significantly different from 1 in 4000.â€A story in the New Scientist stated that â€œa study by Jobling’s team suggests that 1 in 1000 men has the deletion,â€ but I think that is an overstatement by the media. I havenâ€™t seen anywhere that Dr. Jobling made such a statement – he was merely listing some of his data. Elsewhere, Ann Turner has suggested that at FTDNA, the number is around 1 in 8,000.Although the exact frequency has not yet been determined, it appears that it is rather low.
My great-grandmother belongs to Haplogroup H, and I always feel a little bad for her.Not that I have anything against Haplgroup Hâ€™ers, but they got the short end of the stick.You see, currently all mtDNA sequences are compared to the Revised Cambridge Reference Sequence (rCRS), an mtDNA sequenced derived in the early 1980â€™s and recently updated.Since the source of most of the mtDNA for that sequence belonged to Haplogroup H, people who belong to Haplogroup H often have no deviations at all and their sequencing results tend to be a little boring.Imagine if your mtDNA testing company sends your results and they say: â€œYou belong to Haplogroup H, and your deviations from the rCRS are as follows: 0.â€You see, a little dull.
A recent paper in the American Journal of Physical Anthropology examined mtDNA extracted from the hair and nails of eight Inuit mummies. These essentially freeze-dried mummies were discovered in 1972 in a natural tomb at Qilakitsoq in the Uummannaq Municipality of Greenland. Using C14 analysis, the mummies have been dated to approximately 1460.
The bodies were found in two separate positions about 1 meter apart. In Grave I, there were five bodies:
I/1 = Male Infant #1 – about 6 months of age
I/2 = Male Infant #2 – about 4 to 4.5 years of age
I/3 = Female #1 – about 20-25 years of age
I/4 = Female #2 – about 25-30 years of age
I/5 = Female #3 – about 40-50 years of age
In Grave II, there were 3 bodies:
I/6 = Female #4 – about 50 years of age
I/7 = Female #5 – about 18-21 years of age
I/8 = Female #6 – about 50 years of age
The researcher’s primary goals were to sequence the HVR1 region of each individual’s mtDNA, and then to compare the results to determine possible relatedness of the remains. All 8 individuals fell into Haplogroup A2, but belonged to three different maternal lineages which were mixed between the two grave sites:
The BBC has an article about genetic genealogy testing of nine celebrities in Brazil for a project called Afro-Brazilian Roots by the Brazilian Service of the BBC. These lucky individuals received Y-DNA, mtDNA, and autosomal testing, and most were surprised with the large proportion of European genealogy revealed by the tests.
“Brazil has more people with black ancestry than any other nation outside Africa, and its mix of Indians, Africans and Europeans gave rise in the past to the claim that the country was a ‘racial democracy.’ ”
“No one is pure in Brazil. That’s why the country has the face of the future,” said Harvard Professor Henry Louis Gates Jr., coordinator of a similar project in the U.S.”
The Genographic Project is probably the largest genetic genealogy project in the world. For $99, the project will sequence seqments of either your mtDNA or your Y chromosome for addition into their publicly available database. The goal of the project, with ten research centers around the world, is to “map humanity’s genetic journey through the ages,” and to “address anthropological questions on a global scale using genetics as a tool.” There has been a huge response to this project, and they just released their first research paper using the results they have collected to date:
â€œFamily Tree DNA is proud to announce that the first paper resulting from data collected through the Genographic Project has been published today at the PLOS GENETICS.â€œThe Genographic Project Public Participation Mitochondrial DNA Databaseâ€ can be found at http://genetics.plosjournals.org and it will be uploaded to the Family Tree DNA public library as well.
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.
An article in yesterdayâ€™s Mount Vernon News highlighted the use of genetic genealogy to identify POWâ€™s from the Korean War who had died in North Korean detention facilities.
The Korean War Project, sponsored by the Department of Defense, uses genetic tests, especially mtDNA (because mtDNA is so hardy), to match remains to living family members. This type of identification has been used for years now.
One of the volunteers for the Project, Carol Kiley, has found 21 matches in the three months sheâ€™s been tracking down families.Ms. Kiley says that her background in genealogy helps her locate the families of missing soliders.
The article discusses the case of Pvt. Robert Wayne McNeil who served in F Company of the 7th Infantry Regiment, 3rd Infantry Division.He was captured as a POW on April 25, 1951, and died thereafter.Remains have been discovered that might be McNeilâ€™s, and Ms. Kiley is attempting to locate a sister, niece, or female cousin for mtDNA testing.