Microsatellite variation and the differentiation of modern humans |
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Authors: | Anna Pérez-Lezaun Francesc Calafell E Mateu David Comas Rosalía Ruiz-Pacheco J Bertranpetit |
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Institution: | (1) Laboratori d’Antropologia, Facultat de Biologia, Universitat de Barcelona, Diagonal 645, E-08028 Barcelona, Spain Tel.: +34-3-402-14-61; Fax: +34-3-411-08-87 e-mail jaumeb@porthos.bio.ub.es, ES;(2) Institut de Salut Pública de Catalunya, Barcelona, Spain, ES |
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Abstract: | This study presents an analysis of 20 tetranucleotide microsatellites in 16 worldwide human populations representing the
major geographic groups. Global Fst values for the 20 microsatellites are indicators of their relative validity as tools in
human population genetics. Four different measures of genetic distance (Fst, DSW, δμ
2 and Rst) have been tested and compared with each other. Neighbor-joining trees have been constructed for all the measures
of genetic distance and populations. Measures of genetic distance such as Fst, which does not consider different mutational
relationships among alleles and has a known relationship to differentiation by drift, and to some extent DSW, reflect what is known of human evolution, while mutation-based distances such as Rst and δμ
2 give very different results from those recognized from other sources (genetic or archaeological). When the genetic relationship
between human populations is analyzed through allelic frequencies for microsatellites, the choice of distance may be a key
issue in the picture obtained of genetic relationships between human populations. The results of the present study suggest
that genetic drift played the main role in generating the present distributions of microsatellite alleles and their variation
among human populations; the role of mutation must have been less important owing to the time constraint imposed by the small
timescale in which most human differentiation has occurred. Moreover, the results support the theory of a recent origin of
modern humans, although the existence of strong bottlenecks in the origin of the various human groups seems unlikely.
Received: 20 March 1996 |
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