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.
James Stuart, known as King James VI in Scotland and King James the I in England and Ireland, issued an edict in 1603 that abolished the surname MacGregor and declared that everyone named MacGregor or Gregor must renounce the name or suffer death, all in response to the murder of the King’s Forester, who himself had hanged some MacGregors for poaching. A bounty of 1,000 merks (apparently a great deal of money) was placed on the heads of the clan leaders, with 100 merks for other members of the clan.
This the origin of Rob Roy, also known as Red MacGregor, or Robert Roy MacGregor. For the next 200 years The Clan Gregor endured this persecution. Men were killed while women and children were sold into slavery in the New World. Finally, in 1774, the Act of Proscription against the clan was repealed.
A study conducted by researchers at the Institute of Human Genetics at the Center for Life in Newcastle, Englanddiscovered that only 50% of males with the last name Robson can be traced back to a recent single ancestor.The research, commissioned to create a new exhibit called â€œThe Robson Encyclopedia,â€ compared 12 markers from the Y-chromosomes of 100 male volunteer Robsons.
Apparently the Border Reiver clan of the Robsons in the TyneValley was notorious in the 1600â€™s and was made famous in a book called â€œThe Steel Bonnetsâ€ by George MacDonald Fraser.According to one site:
â€œThe term Border Reivers describes a number of English and Scottish families who fought a seemingly endless series of bloody confrontations from the 13th Century to the mid 17th Century. Sheep stealing and burning each otherâ€™s homes were part of everyday Border Reiver life – they were rugged, tough people who lived by their own laws.â€
Yesterday The Jewish Press announced the â€œKohen and Levi Conference: A Gathering of the Tribe.â€The conference, to be held on July 15-19, 2007, is hosted in Jerusalem by The Center for Kohanim.The Center was founded in 1985 to â€œpromote identity and knowledge among Kohanim the world over, and increase their feelings of awareness and commitment to their heritage as Kohanim.â€The conference has a main page, a press release, and a brochure (pdf).According to the press release:
Recent scientific research and DNA testing has proven that todayâ€™s descendents of the biblical Kohanim are genetically related. Molecular geneticists have discovered the â€œCohen Modal Haplotypeâ€ which is a Y- chromosome DNA lineage signature shared by a majority of both Ashkenazi and Sephardi Kohanim. This indicates a direct patrilineal descent of present-day Kohanim from a single ancient ancestor, genetically dated to have lived approximately 3,300 years ago, a time corresponding to the Exodus from Egypt.