A multiplex SNP assay for the dissection of human Y-chromosome haplogroup O representing the major paternal lineage in East and Southeast Asia

Department of Forensic Molecular Biology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Journal of Human Genetics (Impact Factor: 2.46). 11/2011; 57(1):65-9. DOI: 10.1038/jhg.2011.120
Source: PubMed


The majority of human Y chromosomes in men from East and Southeast Asia, and a considerable proportion of Oceanian men, especially those from Remote Oceania, belong to haplogroup O, characterized by a 5-bp deletion known as M175 (rs2032678). Recent advances in Y-SNP (single-nucleotide polymorphism) discovery have substantially improved the phylogenetic resolution of haplogroup O sublineages. By taking advantage of this recent knowledge, we hereby introduce a sensitive Y-SNP multiplex genotyping assay for the dissection of haplogroup O into its most significant sublineages. The multiplex assay thus provides an efficient way to infer patrilineal biogeographic ancestry in males of Asian/Oceanian patrilineal descent, and is suitable for applications in human population genetics, anthropological, genealogical, as well as forensic studies.

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