mercyngrace Posted February 7, 2012 Posted February 7, 2012 I recently heard about an article that was referenced in a discussion about BOM DNA. The article is about a family in Mexico where the women all developed breast cancer. After many tests, doctors traced the gene that led to this familial outbreak to a pre-Babylonian Jewess.http://discovermagazine.com/2011/dec/17-lethal-gene-emerged-ancient-palestineOf course, the article indicates that the genetic link comes through a conquistador heritage long forgotten. If any of you have access to the full article and wouldn't mind posting some of the details, I'd appreciate it.
Mariner Posted February 7, 2012 Posted February 7, 2012 (edited) Nature Genetics 11, 198 - 200 (1995)doi:10.1038/ng1095-198 The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals AbstractSince BRCA1, the first major gene responsible for inherited breast cancer, was cloned, more than 50 unique mutations have been detected in the germline of individuals with breast and ovarian cancer. In high-risk pedigrees, female carriers of BRCA1 mutations have an 80-90% lifetime risk of breast cancer, and a 40-50% risk of ovarian cancer. However, the mutation stats of individuals unselected for breast or ovarian cancer has not been determined, and it is not known whether mutations in such individuals confer the same risk of cancer as in individuals from the high-risk families studied so far. Following the finding of a 185delAG frameshift mutation in several Ashkenazi Jewish breast/ovarian families, we have determined the frequency of this mutation in 858 Ashkenazim seeking genetic testing for conditions unrelated to cancer, and in 815 reference individuals not selected for ethnic origin. We observed the 185delAG mutation in 0.9% of Ashkenazim (95% confidence limit, 0.4-1.8%) and in none of the reference samples. Our results suggest that one in a hundred women of Ashkenazi descent may be at especially high risk of developing breast and/or ovarian cancer. Edited February 7, 2012 by Mariner
Mariner Posted February 7, 2012 Posted February 7, 2012 mercyngrace,In case you are interested, and relative to another thread on the persistence of Old World mtDNA markers in matrilineal descendants, the BRCA1 185delAG mutation is an example of a mtDNA marker that originated with a single female approximately 2,500 years ago and is still found in the matrilineal descendents of that single female.
KevinG Posted February 7, 2012 Posted February 7, 2012 DNA talk always makes my head spin.mDNA arguments always boil down to "yo mama!" in the end.
volgadon Posted February 8, 2012 Posted February 8, 2012 mDNA arguments always boil down to "yo mama!" in the end.Don't you mean "yo mitochondrion"?
altersteve Posted February 8, 2012 Posted February 8, 2012 (edited) mDNA arguments always boil down to "yo mama!" in the end.Yo X chromosome! Edited February 8, 2012 by altersteve
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