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Multiplex genotyping assays for fine‐resolution subtyping of the major human Y ‐chromosome haplogroups E , G , I , J , and R in anthropological, genealogical, and forensic investigations
Author(s) -
Oven Mannis,
Toscani Kimberley,
Tempel Nathalie,
Ralf Arwin,
Kayser Manfred
Publication year - 2013
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.201300210
Subject(s) - haplogroup , genotyping , multiplex , genetics , y chromosome , biology , subtyping , lineage (genetic) , computational biology , allele , haplotype , gene , genotype , computer science , programming language
Inherited DNA polymorphisms located within the nonrecombing portion of the human Y chromosome provide a powerful means of tracking the patrilineal ancestry of male individuals. Recently, we introduced an efficient genotyping method for the detection of the basal Y ‐chromosome haplogroups A to T , as well as an additional method for the dissection of haplogroup O into its sublineages. To further extend the use of the Y chromosome as an evolutionary marker, we here introduce a set of genotyping assays for fine‐resolution subtyping of haplogroups E , G , I , J , and R , which make up the bulk of W estern E urasian and A frican Y chromosomes. The marker selection includes a total of 107 carefully selected bi‐allelic polymorphisms that were divided into eight hierarchically organized multiplex assays (two for haplogroup E , one for I , one for J , one for G , and three for R ) based on the single‐base primer extension ( SN a P shot) technology. Not only does our method allow for enhanced Y ‐chromosome lineage discrimination, the more restricted geographic distribution of the subhaplogroups covered also enables more fine‐scaled estimations of patrilineal bio‐geographic origin. Supplementing our previous method for basal Y ‐haplogroup detection, the currently introduced assays are thus expected to be of major relevance for future DNA studies targeting male‐specific ancestry for forensic, anthropological, and genealogical purposes.