Population Genetics of Y-Chromosome Short Tandem Repeats in Humans |
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| Authors: | Anna Pérez-Lezaun Francesc Calafell Mark Seielstad Eva Mateu David Comas Elena Bosch Jaume Bertranpetit |
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| Institution: | (1) Laboratori d'Antropologia, Facultat de Biologia, Universitat de Barcelona, Barcelona, Diagonal 645, 08028 Barcelona, Spain, ES;(2) Department of Organismic and Evolutionary Biology, Harvard University, 26 Oxford St., Cambridge, MA 02138, USA, US;(3) Department of Genetics, Stanford University, 300 Pasteur Drive, Stanford, CA 94305, USA, US |
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| Abstract: | Eight human short tandem repeat polymorphisms (STRs) also known as microsatellites—DYS19, DYS388, DYS390, DYS391, DYS392,
DYS393, DYS389I, and DYS389II, mapping in the Y chromosome—were analyzed in two Iberian samples (Basques and Catalans). Allele
frequency distributions showed significant differences only for DYS392. Fst and gene diversity index (D) were estimated for the Y STRs. The values obtained are comparable to those of autosomal STR if corrections for the smaller
effective population size on the Y chromosome are taken into account. This suggests that Y-chromosome microsatellites might
be as useful as their autosomal counterparts to both human population genetics and forensics. Our results also reinforce the
hypothesis that selective sweeps in the Y chromosome in recent times are unlikely. Haplotypes combining five of the loci were
constructed for 71 individuals, showing 29 different haplotypes. A haplotype tree was constructed, from which an estimate
of 7,000 to 60,000 years for the age of the Y-chromosome variation in Iberia was derived, in accordance with previous estimates
obtained with mtDNA sequences and nuclear markers.
Received: 3 January 1997 / Accepted: 25 April 1997 |
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| Keywords: | : Y chromosome — STR — Microsatellite — Basques — Catalans — Haplotype |
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