Founder mutation
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 | Ancestry v2c, Ancestry v2d |
| rs147394623 | DHDDS | Retinitis pigmentosa | Recessive | Ashkenazi Jews | Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d |
| rs386833395 | BRCA1 | Breast/ovarian cancer | Dominant | Ashkenazi Jews | Ancestry v2, Ancestry v2d |
| rs80357906 | BRCA1 | Breast/ovarian cancer | Dominant | Ashkenazi Jews | Ancestry v2, Ancestry v2d |
| rs80357971 | BRCA1 | Breast/ovarian cancer | Dominant | Scotland, Northern Ireland | Ancestry v2, Ancestry v2c, Ancestry v2d |
| rs80359550 | BRCA2 | Breast/ovarian cancer | Dominant | Ashkenazi Jews | Ancestry v2, Ancestry v2c, Ancestry v2d |
| rs80359671 | BRCA2 | Breast/ovarian cancer | Dominant | Iceland | Ancestry v2, Ancestry v2c, Ancestry v2d |
| rs80338939 | GJB2 | Deafness | Recessive | Multiple populations | Ancestry v2, Ancestry v2c, Ancestry v2d |
| rs137852870 | BCKDHA | Maple Syrup Urine Disease | Recessive | Old Order Mennonites (PA, USA) | Ancestry v2, Ancestry v2c, Ancestry v2d |
| rs387906309 | HEXA | Tay Sachs | Recessive | Ashkenazi Jews (& others) | Ancestry v2, Ancestry v2d |
| rs587782557 | APC | Familial Polyposis | Dominant | Mormons | 23andMe v5, Ancestry v2d |
| rs121909715 | GSN | Familial Amyloidosis | Dominant | Finns | Ancestry v2c, Ancestry v2d |
| rs119466000 | LRPPRC | Leigh Syndrome | Recessive | French Canadians | Ancestry v2, Ancestry v2c, Ancestry v2d |
| rs120074190 | KCNQ1 | Long QT Syndrome | Dominant | Finland | Ancestry v2, Ancestry v2c, Ancestry v2d |
