June 03, 2007

Haplogroup R1a1 in prehistoric Southern Siberia

This is an important paper both for making Y-DNA study of ancient remains possible, and also for confirming the late prehistoric presence of the major West Eurasian haplogroup R1a1 in the region of southern Siberia. As I have noted elsewhere, the Caucasoids who bore haplogroup R1a1 in prehistoric times in that part of the world, were later influenced from population movements in the opposite direction, representing the westward push of Mongoloid(-influenced) peoples.

Int J Legal Med. 2007 May 30;

First successful assay of Y-SNP typing by SNaPshot minisequencing on ancient DNA.

Bouakaze C, Keyser C, Amory S, Crubezy E, Ludes B.

Institute of Legal Medicine, EA3428, Strasbourg, France, caroline.bouakaze@ulp.u-strasbg.fr.

In the present study, a set of 13 Y-chromosomal single nucleotide polymorphisms (Y-SNPs) selected for the identification of the most frequent Asian Y-haplogroups was included in an allele-specific primer extension assay. Single nucleotide polymorphism (SNP) genotyping was accomplished by co-amplification of these 13 DNA fragments within 2 multiplex PCRs followed by detection with 1 minisequencing reaction using the SNaPshottrade mark Multiplex kit and analysis of extension products by capillary electrophoresis. First developed on modern samples, the assay was optimized for the analysis of 11 ancient DNA (aDNA) samples from the Krasnoyarsk region (southern Siberia) that were dated from 5,500-1,800 years before present (YBP). SNP typing was successful for most of them, which were all assigned to Y-haplogroup R1a1 except one. These results show that SNPs are well-suited for the analysis of aged and degraded DNA samples. Moreover, we found that the SNaPshot minisequencing methodology is a convenient, robust, and efficient method for SNP typing. To our knowledge, this study reports the first successful investigation of Y-SNPs on aDNA samples. The potential use of Y-SNPs in both evolutionary and forensic fields is also discussed.


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