Abstract

GLESMANN, Laura A.; MARTINA, Pablo F.; VIDAL RIOJA, Lidia  and  CATANESI, Cecilia I.. Mutation rate of 7 X-STRs of common use in population genetics. BAG, J. basic appl. genet. [online]. 2009, vol.20, n.2. ISSN 1852-6233.

Microsatellite loci analysis is a relevant tool in population genetic studies and also in paternity testing. In this field the X-chromosome STR loci are widely used for female offspring testing but their mutation rates are scarcely known. In this work we performed a mutation rate analysis of seven STR markers located in the X- chromosome specific region, in mother-son pairs and father-mother-daughter trios. Among 1015 allele transfers, we found only one change for a mother-daughter transmission in the DXS9898 locus, consisting of a loss of one single repeat. This finding allowed us to estimate a general mutation rate of μ=9.85 x 10^-4 (2.49 x 10^-4 - 5.49 x 10^-2) which can be applied to population studies. This value is consistent with other reports on autosomal STR loci, suggesting that similar molecular mechanisms are acting on X and autosomal repetitive markers.

Keywords : X chromosome; STR; Mutation rate; Population genetics.

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