Unique-event polymorphism

In genetic genealogy, a unique-event polymorphism (UEP) is a genetic marker that corresponds to a mutation that is likely to occur so infrequently that it is believed overwhelmingly probable that all the individuals who share the marker, worldwide, will have inherited it from the same common ancestor, and the same single mutation event.

Generally, UEP is an allele for which all copies derive from a single mutational event.[1]

In genetic genealogy, the mutations considered to be UEPs can be any germline mutation. They are usually single-nucleotide polymorphisms (SNP) – the replacement of one letter by another in the DNA sequence, and the terms UEP and SNP are often loosely used interchangeably.[citation needed] But UEPs may also be large-scale additions, such as the YAP insertion that defines Y-DNA haplogroup DE, inversions or deletions.[2]

The discovery and widespread testing of new UEPs has been the key to the increasingly detailed analysis of the patrilineal and matrilineal ancestry of mankind into more distinct family trees of Y-DNA and mtDNA haplogroups. UEPs in X and autosomal chromosomes are also used to trace genealogy, to extend the time ranges available for Y-DNA and mtDNA.[3]

  1. ^ Barton, Nicholas H.; et al. (2007). Evolution. Cold Spring Harbor, N.Y.: Cold Spring Harbor Laboratory Press. ISBN 9780879696849. OCLC 86090399.
  2. ^ Weale, Michael E; Shah, Tina; Jones, Abigail L; Greenhalgh, John; Wilson, James F; Nymadawa, Pagbajabyn; Zeitlin, David; Connell, Bruce A; Bradman, Neil; Thomas, Mark G (1 September 2003). "Rare Deep-Rooting Y Chromosome Lineages in Humans: Lessons for Phylogeography". Genetics. 165 (1): 229–234. doi:10.1093/genetics/165.1.229. PMC 1462739. PMID 14504230.
  3. ^ Garrigan, D.; Hammer, F. (Sep 2006). "Reconstructing human origins in the genomic era". Nature Reviews Genetics. 7 (9): 669–680. doi:10.1038/nrg1941. ISSN 1471-0056. PMID 16921345. S2CID 176541.