| Founder mutation |
A mutation that arose in a common ancestor; the same mutation is found in related individuals who share the same haplotype; it may have arisen many generations ago; mutation carriers often live in same isolated geographic region; it can be of low or high frequency in the population |
| Mutation hotspot |
An area within a gene that is prone to frequent spontaneous mutations such that the same mutation is found arising in unrelated individuals; often found scattered in different parts of the world; may have arisen recently; represents genetic DNA instability at the site of mutation |
| Public health measures |
Screen for frequency of the founder mutation in the general population; newborn nursery screen if high frequency exists |
| Genetic counseling |
Counseling of concerned individuals regarding the risks for genetic disorders; premarital founder mutation screening in members of a defined group; prenatal diagnosis may be possible in families in which both parents are carriers of the founder mutation |
| XP founder mutations identifed |
Japan: XPA, XP variant; North Africa: XPC; Israel: XPD |
