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The Genetic Structure of Human Populations Studied Through Short Insertion‐Deletion Polymorphisms
Author(s) -
BastosRodrigues Luciana,
Pimenta Juliana R.,
Pena Sergio D. J.
Publication year - 2006
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.2006.00287.x
Subject(s) - indel , genetic diversity , microsatellite , genetics , evolutionary biology , genome , biology , population , human genetic variation , genetic variation , human genome , allele , gene , single nucleotide polymorphism , genotype , demography , sociology
Summary 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.