Sub‐populations within the major European and African derived haplogroups R1b3 and E3a are differentiated by previously phylogenetically undefined Y‐SNPs

摘要: Single nucleotide polymorphisms on the Y chromosome (Y-SNPs) have been widely used in study of human migration patterns and evolution. Potential forensic applications Y-SNPs include their use predicting ethnogeographic origin donor a crime scene sample, or exclusion suspects sexual assaults (the evidence which often comprises male/female mixtures may involve multiple perpetrators), paternity testing, identification non- half-siblings. In this study, we population 118 African- 125 European-Americans to evaluate 12 previously phylogenetically undefined for ability further differentiate individuals who belong major African (E3a)- European (R1b3, I)-derived haplogroups. Ten these markers define seven new sub-clades (equivalent E3a7a, E3a8, E3a8a, E3a8a1, R1b3h, R1b3i, R1b3i1 using Chromosome Consortium nomenclature) within haplogroups E R. Interestingly, during course evaluated M222, sub-R1b3 marker rarely used, found that sub-haplogroup effect defines Y-STR Irish Modal Haplotype (IMH). The bi-allelic described here are expected find application evolutionary studies genetics.