An efficient multiplex genotyping approach for detecting the major worldwide human Y-chromosome haplogroups

✍ Scribed by Mannis van Oven; Arwin Ralf; Manfred Kayser

• Book ID: 106091356
• Publisher: Springer-Verlag
• Year: 2011
• Tongue: German
• Weight: 409 KB
• Volume: 125
• Category: Article
• ISSN: 0937-9827
• DOI: 10.1007/s00414-011-0605-2

✦ Synopsis

The Y chromosome is paternally inherited and therefore serves as an evolutionary marker of patrilineal descent. Worldwide DNA variation within the non-recombining portion of the Y chromosome can be represented as a monophyletic phylogenetic tree in which the branches (haplogroups) are defined by at least one SNP. Previous human population genetics research has produced a wealth of knowledge about the worldwide distribution of Y-SNP haplogroups. Here, we apply previous and very recent knowledge on the Y-SNP phylogeny and Y-haplogroup distribution by introducing two multiplex genotyping assays that allow for the hierarchical detection of 28 Y-SNPs defining the major worldwide Y haplogroups. PCR amplicons were kept small to make the method sensitive and thereby applicable to DNA of limited amount and/or quality such as in forensic settings. These Y-SNP assays thus form a valuable tool for researchers in the fields of forensic genetics and genetic anthropology to infer a man's patrilineal bio-geographic ancestry from DNA.