The Genetic Structure of Human Populations Studied Through Short Insertion-Deletion Polymorphisms


*Corresponding author: Sérgio Danilo Junho Pena, GENE – Núcleo de Genética Médica, Av. Afonso Pena 3111/9, 3013-909 Belo Horizonte, MG Brazil. Tel: +55-31-32848000; Fax: +55-31-32273792. E-mail:


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 (1064 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.