The genetic structure of human populations studied through short insertion-deletion polymorphisms.
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.
Bastos-Rodrigues
Luciana
L
Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, 31270-910 Belo Horizonte, Brazil.
Pimenta
Juliana R
JR
Pena
Sergio D J
SD
D004251:DNA Transposable Elements; D017353:Gene Deletion; D014644:Genetic Variation; D005828:Genetics, Population; D015894:Genome, Human; D005843:Geography; D006801:Humans; D011110:Polymorphism, Genetic
D004251:DNA Transposable Elements