The genetic structure of human populations studied through short insertion-deletion polymorphisms

Ann Hum Genet. 2006 Sep;70(Pt 5):658-65. doi: 10.1111/j.1469-1809.2006.00287.x.

Abstract

In a landmark study Rosenberg et al. (2002) analyzed human genome diversity with 377 microsatellites in the HGDP-CEPH Genome Diversity Panel and reported that the populations were structured into five geographical regions: America, Sub-Saharan Africa, East Asia, Oceania and a cluster composed of Europe, the Middle East and Central Asia. They also observed that the within-population component accounted for 93-95%, and that the among-regions portion was only 3.6%, of the total genetic variance. We have also studied the HGDP-CEPH Diversity Panel (1,064 individuals from 52 populations) with a set of 40 biallelic slow-evolving short insertion-deletion polymorphisms (indels). We confirmed the partition of worldwide diversity into five genetic clusters that correspond to major geographic regions. Using the indels we have also disclosed an among-regions component of genetic variance considerably larger (12.1%) than had been estimated using microsatellites. Our study demonstrates that a set of 40 well-chosen biallelic markers is sufficient for the characterization of human population structure at the global level.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Transposable Elements*
  • Gene Deletion*
  • Genetic Variation
  • Genetics, Population*
  • Genome, Human*
  • Geography
  • Humans
  • Polymorphism, Genetic*

Substances

  • DNA Transposable Elements