This study used a sample of 118 African-Americans and 125 European-Americans in evaluating 12 previously phylogenetically undefined Y-SNPs for their ability to further differentiate individuals who belong to the major African (E3a)-derived and European (R1b3, I)-derived haplogroups.
Major Y-SNP haplogroups were determined with 56 well-defined Y-SNPs, using a hierarchical typing strategy with the described pyrosequencing technology for genotyping. Ten of these markers define seven new subclades within haplogroups E and R. Using the Y Chromosome Consortium nomenclature, these new subclades are equivalent to E3a7a, E3a8, E3a8a, E3a8a1, R1b3h, R1b3i, and R1b3i1. During the study, the authors evaluated M222, a sub-Rib3 marker rarely used, and they found that this sub-haplogroup defines the Y-STR Irish Modal Haplotype (IMH). These new bi-allelic markers can be applied in human evolutionary studies and forensic genetics. The descriptions of materials and methods address candidate marker selection; genomic DNA isolation, PCR, and genotyping; and phylogenetic and statistical analysis. 1 table, 1 figure, and 25 references