AmericaPlex26: a SNaPshot multiplex system for genotyping the main human mitochondrial founder lineages of the Americas

PLoS One. 2014 Mar 26;9(3):e93292. doi: 10.1371/journal.pone.0093292. eCollection 2014.

Abstract

Phylogeographic studies have described a reduced genetic diversity in Native American populations, indicative of one or more bottleneck events during the peopling and prehistory of the Americas. Classical sequencing approaches targeting the mitochondrial diversity have reported the presence of five major haplogroups, namely A, B, C, D and X, whereas the advent of complete mitochondrial genome sequencing has recently refined the number of founder lineages within the given diversity to 15 sub-haplogroups. We developed and optimized a SNaPshot assay to study the mitochondrial diversity in pre-Columbian Native American populations by simultaneous typing of 26 single nucleotide polymorphisms (SNPs) characterising Native American sub-haplogroups. Our assay proved to be highly sensitive with respect to starting concentrations of target DNA and could be applied successfully to a range of ancient human skeletal material from South America from various time periods. The AmericaPlex26 is a powerful assay with enhanced phylogenetic resolution that allows time- and cost-efficient mitochondrial DNA sub-typing from valuable ancient specimens. It can be applied in addition or alternative to standard sequencing of the D-loop region in forensics, ancestry testing, and population studies, or where full-resolution mitochondrial genome sequencing is not feasible.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Founder Effect
  • Genes, Mitochondrial*
  • Genetics, Medical
  • Genome, Mitochondrial
  • Genotyping Techniques / methods*
  • Haplotypes
  • Humans
  • Indians, South American / genetics*
  • Multiplex Polymerase Chain Reaction
  • Phylogeny
  • Polymorphism, Single Nucleotide
  • Sensitivity and Specificity

Grants and funding

This work was funded by the Australian Research Council (Discovery Project 1095782) awarded to WH and BL. BL also held an Australian Research Council Postdoctoral Fellowship. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.