BRCA2 as a Cycle Path in Cambridge

Today represents a brief break from genetic genealogy, in a way, but I thought the topic was interesting enough to talk about.


BRCA2 (Breast Cancer Type 2 susceptibility protein) is a tumor suppressor gene involved in the repair of DNA damage.BRCA2 binds to and regulates another protein (the product of the RAD51 gene) to fix DNA breaks caused by any number of factors.BRCA2 was discovered in 1995 by Professor Michael Stratton and Dr. Richard Wooster in cooperation with the Wellcome Trust Sanger Institute.

To date, researchers have identified 450 different mutations in the BRCA2 gene, some of which unfortunately cause an increased risk of cancer.Typically, the mutated gene produces an abnormally short protein that is unable to help the cell fix DNA breaks.Thus, mutations can accumulate and eventually lead to cancer (breast, ovarian, prostate, or pancreatic).

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Genetic Genealogy and the Amish

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.

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What do the results of a Deep SNP test mean?

Often, at least at the current stage of genetic genealogy, DNA sequencing does not reveal enough information to identify a person’s particular Y chromosome or mtDNA haplogroup.The example I will be using in this post is Haplogroup E.Haplogroup E split into E1, E2, and E3 about 28,000 years ago.Current tests offered by many sequencing companies are able to place a person in the general “E” Haplogroup, but might be unable to determine exactly which subclade of E a person descends from.In such a situation, a “Deep SNP” test can be used to fill in that information.

A SNP is single nucleotide polymorphism, or a change in the DNA sequence at a single nucleotide.For instance, the switch of a C for G, a cytosine for a guanine.You can see a chart of some of the most common SNPs tested for genetic genealogy here or here.The Deep SNP test (which can go by other names) analyzes a person’s DNA, such as the Y chromosome, for the presence or lack of these mutation(s).

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23andMe in the News

A June 18th article from MSNBC about online family trees and social networking revealed another tidbit about 23andMe. According to the article (and no source of the information is given), 23andMe “plans to charge $1,000 for an extensive genetic profile and features to help track down lost relatives.”

I’m not exactly sure what that means. Are distant cousins lost relatives? Or is the unknown birth mother of an adopted child a lost relative? Given 23andMe’s interest in genetic genealogy, I’m guessing that it’s for general interest, rather than just for people looking for birth parents. Or perhaps they’re doing both – it’s really not much of a difference. It’s all about building a database, of course. Without the ability to compare results to a database, the usefulness of DNA testing for genealogical purposes can still be informative but is limited.

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Genetic Genealogy in the News

ancestry1.gif Yesterday was another big day for genetic genealogy, with two major announcements.First, as I have previously mentioned, Ancestry.com teamed up with Sorenson Genomics to offer DNA testing.The results of that testing can be, at the owner’s discretion, tied into a new DNA database as well as their massive collection of genealogical source materials.Here’s the official announcement from PRNewswire: “Ancestry.com Enters DNA Genealogy Field Through Exclusive Partnership With Sorenson Genomics: Combines Three Major Pillars of Family History Research – Historical Records, DNA and Family Trees.”Here’s another blurb at Family Tree Magazine.According to one source (CNET News), the $200 test will examine both Y DNA and mtDNA, but that hasn’t been confirmed.It only makes sense to test both, however, especially at that price.

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Interview with Katherine Hope Borges at ISOGG

The following is an interview with Katherine Hope Borges, founder of ISOGG (The International Society of Genetic Genealogy), done at the 2007 SoCal Genealogical Jamboree. ISOGG has about 5,000 members and is growing rapidly. ISOGG has MANY great services on their website, including the “Founding Fathers DNA Page”, and an up-coming Presidential DNA page.

If you liked the video, there are lots more at Roots Television!! If you’re interested in genetic genealogy and haven’t checked out Roots Television yet, you don’t know what you’re missing.

Thanks to Megan for letting me snag this video!


Ancestry.com and Sorenson Genomics

Ancestry.com, one of the largest online sources of family trees and genealogy source material, is teaming up with Sorenson Genomics to offer DNA testing.



Ancestry.com has more than 14 million users, meaning that genetic genealogy will be introduced to a huge new group of individuals. Additionally, Ancestry can use the results of this testing to enhance the other databases they already offer – something that the other big testing companies lack.

As of now, the rumored price is to be $200, with no mention of the type of testing to be offered. There’s a lot more information available at Eastman’s Online Genealogy Newsletter, The Jerusalem Post, The Times Daily.com, The Salt Lake Tribune, and The Deseret News.com. Look for the announcement to be made sometime today.

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Genetic Genealogy Used to Identify Lost Soldiers

An article in yesterday’s Mount Vernon News highlighted the use of genetic genealogy to identify POW’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 she’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 McNeil’s, and Ms. Kiley is attempting to locate a sister, niece, or female cousin for mtDNA testing.

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Using DNA to Reunite the Clan Gregor


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.

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Border Reivers DNA Research

A study conducted by researchers at the Institute of Human Genetics at the Center for Life in Newcastle, England discovered 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 “The Robson Encyclopedia,” compared 12 markers from the Y-chromosomes of 100 male volunteer Robsons.

Apparently the Border Reiver clan of the Robsons in the Tyne Valley was notorious in the 1600’s and was made famous in a book called “The Steel Bonnets” by George MacDonald Fraser.According to one site:

“The 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 other’s homes were part of everyday Border Reiver life – they were rugged, tough people who lived by their own laws.”

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