Human neutral genetic variation and forensic STR data

PLoS One. 2012;7(11):e49666. doi: 10.1371/journal.pone.0049666. Epub 2012 Nov 21.

Abstract

The forensic genetics field is generating extensive population data on polymorphism of short tandem repeats (STR) markers in globally distributed samples. In this study we explored and quantified the informative power of these datasets to address issues related to human evolution and diversity, by using two online resources: an allele frequency dataset representing 141 populations summing up to almost 26 thousand individuals; a genotype dataset consisting of 42 populations and more than 11 thousand individuals. We show that the genetic relationships between populations based on forensic STRs are best explained by geography, as observed when analysing other worldwide datasets generated specifically to study human diversity. However, the global level of genetic differentiation between populations (as measured by a fixation index) is about half the value estimated with those other datasets, which contain a much higher number of markers but much less individuals. We suggest that the main factor explaining this difference is an ascertainment bias in forensics data resulting from the choice of markers for individual identification. We show that this choice results in average low variance of heterozygosity across world regions, and hence in low differentiation among populations. Thus, the forensic genetic markers currently produced for the purpose of individual assignment and identification allow the detection of the patterns of neutral genetic structure that characterize the human population but they do underestimate the levels of this genetic structure compared to the datasets of STRs (or other kinds of markers) generated specifically to study the diversity of human populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa
  • Alleles
  • Databases, Genetic
  • Evolution, Molecular
  • Forensic Genetics / methods*
  • Gene Frequency
  • Genetic Markers
  • Genetic Variation*
  • Genetics, Population
  • Geography
  • Humans
  • Microsatellite Repeats*
  • Polymorphism, Genetic

Substances

  • Genetic Markers

Grants and funding

FCT, the Portuguese Foundation for Science and Technology, supported this work through the personal grant NMS (SFRH/BD/69119/2010). IPATIMUP is an Associate Laboratory of the Portuguese Ministry of Science, Technology and Higher Education and is partially supported by FCT. MC was supported by Swiss National Science Foundation grant 31003A-127465, and EP and MC were supported by intramural funds of the AGP laboratory. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.