Mutation rate of 7 X-STRs of common use in population genetics

GLESMANN LAURA A, MARTINA PABLO F, ARBELETCHE VIDAL RIOJA LIDIA, CATANESI CECILIA I

Basic and Applied Genetics

SOCIEDAD ARGENTINA DE GENÉTICA

Lugar: La Plata, Buenos Aires; Año: 2009 vol. xx p. 37 - 41

1666-0390

ABSTRACT Microsatellite loci analysis is a relevant tool in population genetic studies and also in paternity testing. In this fi eld 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 specifi c region, in mother-son pairs and father-mother-daughter trios. Among 1015 allele transfers, we found only one change for a motherdaughter transmission in the DXS9898 locus, consisting of a loss of one single repeat. This fi nding allowed us to estimate a general mutation rate of ì=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.fi eld 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 specifi c region, in mother-son pairs and father-mother-daughter trios. Among 1015 allele transfers, we found only one change for a motherdaughter transmission in the DXS9898 locus, consisting of a loss of one single repeat. This fi nding allowed us to estimate a general mutation rate of ì=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.fi c region, in mother-son pairs and father-mother-daughter trios. Among 1015 allele transfers, we found only one change for a motherdaughter transmission in the DXS9898 locus, consisting of a loss of one single repeat. This fi nding allowed us to estimate a general mutation rate of ì=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.fi nding allowed us to estimate a general mutation rate of ì=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.ì=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.