Uma abordagem eficiente de genotipagem multiplexa para detectar os principais haplogrupos do cromossomo Y humano no mundo

sexta-feira, agosto 12, 2011

Int J Legal Med. 2011 Jul 22. [Epub ahead of print]

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

van Oven M, Ralf A, Kayser M.


Department of Forensic Molecular Biology, Erasmus MC University Medical Center Rotterdam, 3000 CA, Rotterdam, The Netherlands,


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.