Sub-populations within the major European and African derived haplogroups R1b3 and E3a are differentiated by previously phylogenetically undefined Y-SNPs
✍ Scribed by Lynn M. Sims; Dennis Garvey; Jack Ballantyne
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 152 KB
- Volume
- 28
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Single nucleotide polymorphisms on the Y chromosome (Y-SNPs) have been widely used in the study of human migration patterns and evolution. Potential forensic applications of Y-SNPs include their use in predicting the ethnogeographic origin of the donor of a crime scene sample, or exclusion of suspects of sexual assaults (the evidence of which often comprises male/female mixtures and may involve multiple perpetrators), paternity testing, and identification of non-and half-siblings. In this study, we used a population of 118 Africanand 125 European-Americans to evaluate 12 previously phylogenetically undefined Y-SNPs for their ability to further differentiate individuals who belong to the major African (E3a)and European (R1b3, I)-derived haplogroups. Ten of these markers define seven new subclades (equivalent to E3a7a, E3a8, E3a8a, E3a8a1, R1b3h, R1b3i, and R1b3i1 using the Y Chromosome Consortium nomenclature) within haplogroups E and R. Interestingly, during the course of this study we evaluated M222, a sub-R1b3 marker rarely used, and found that this sub-haplogroup in effect defines the Y-STR Irish Modal Haplotype (IMH). The new biallelic markers described here are expected to find application in human evolutionary studies and forensic genetics.