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Improved Resolution Haplogroup G Phylogeny in the Y Chromosome, Revealed by a Set of Newly Characterized SNPs

Sims et al


Background: Y-SNP haplogroup G (hgG), defined by Y-SNP marker M201, is relatively uncommon in the United States
general population, with only 8 additional sub-markers characterized. Many of the previously described eight sub-markers
are either very rare (2–4%) or do not distinguish between major populations within this hg. In fact, prior to the current
study, only 2% of our reference Caucasian population belonged to hgG and all of these individuals were in sub-haplogroup
G2a, defined by P15. Additional Y-SNPs are needed in order to differentiate between individuals within this haplogroup.
Principal Findings: In this work we have investigated whether we could differentiate between a population of 63 hgG
individuals using previously uncharacterized Y-SNPs. We have designed assays to test these individuals using all known hgG
SNPs (n = 9) and an additional 16 unreported/undefined Y-SNPS. Using a combination of DNA sequence and genetic
genealogy databases, we have uncovered a total of 15 new hgG SNPs that had been previously reported but not
phylogenetically characterized. Ten of the new Y-SNPs are phylogenetically equivalent to M201, one is equivalent to P15
and, interestingly, four create new, separate haplogroups. Three of the latter are more common than many of the previously
defined Y-SNPs. Y-STR data from these individuals show that DYS385*12 is present in (70%) of G2a3b1-U13 individuals while
only 4% of non-G2a3b1-U13 individuals posses the DYS385*12 allele.



© 2007 Молекулярная Генеалогия (МолГен)

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