Have questions? Visit https://www.reddit.com/r/SNPedia

Founder mutation

From SNPedia

In genetics, a founder mutation is a mutation that appears in the DNA of one or more of the individuals who are founders of a distinct population of people. Founder mutations initiate with changes that occur in the DNA and can be passed down to other generations; typically, founder disease mutations are either recessive or if dominant, affect adults after prime reproductive age, and therefore they can spread from the original founder(s) to many of his or her descendants. In addition to their medical significance, founder mutations provide a way for scientists to study the history of human populations and their migrations from place to place.Wikipedia

Well-studied genes, such as the BRCA1 and BRCA2 genes, have hundreds of known founder mutations now described; similarly, some well-studied populations, such as Ashkenazi Jews, harbor founder mutations in many different genes. Therefore, an exhaustive list of founder mutations would be difficult to compile; the following sortable table summarizes some of the best known founder mutations, linked to their SNPedia entries.


SNP rs# Gene Condition Mode of inheritance Population On microarray?
rs794726665 EVC Ellis-van Creveld syndrome Recessive Amish
rs147394623 DHDDS Retinitis pigmentosa Recessive Ashkenazi Jews Ancestry v2, 23andMe v5
rs386833395 BRCA1 Breast/ovarian cancer Dominant Ashkenazi Jews Ancestry v2
rs80357906 BRCA1 Breast/ovarian cancer Dominant Ashkenazi Jews Ancestry v2
rs80357971 BRCA1 Breast/ovarian cancer Dominant Scotland, Northern Ireland Ancestry v2
rs80359550 BRCA2 Breast/ovarian cancer Dominant Ashkenazi Jews Ancestry v2
rs80359671 BRCA2 Breast/ovarian cancer Dominant Iceland Ancestry v2
rs80338939 GJB2 Deafness Recessive Multiple populations Ancestry v2
rs137852870 BCKDHA Maple Syrup Urine Disease Recessive Old Order Mennonites (PA, USA) Ancestry v2
rs387906309 HEXA Tay Sachs Recessive Ashkenazi Jews (& others) Ancestry v2
rs587782557 APC Familial Polyposis Dominant Mormons 23andMe v5
rs121909715 GSN Familial Amyloidosis Dominant Finns
rs119466000 LRPPRC Leigh Syndrome Recessive French Canadians Ancestry v2
rs120074190 KCNQ1 Long QT Syndrome Dominant Finland Ancestry v2