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

J Hum Genet. 2012 Jan;57(1):65-9. doi: 10.1038/jhg.2011.120. Epub 2011 Nov 3.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asia, Eastern
  • Asia, Southeastern
  • Chromosomes, Human, Y / genetics*
  • Electrophoresis, Agar Gel
  • Fathers*
  • Genetic Markers
  • Genetics, Population
  • Genotyping Techniques / methods*
  • Haplotypes / genetics*
  • Humans
  • Male
  • Phylogeny*
  • Polymorphism, Single Nucleotide / genetics*
  • Reference Standards

Substances

  • Genetic Markers