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

GLESMANN, LAURA ÁNGELA; MARTINA, PABLO FRANCISCO; VIDAL RIOJA LIDIA; CATANESI, CECILIA INÉS

Basic and Applied Genetics

SOCIEDAD ARGENTINA DE GENÉTICA

Lugar: La Plata; Año: 2010 vol. 20 p. 37 - 41

1666-0390

NOTA: el presente trabajo fue aceptado para su publicación en febrero 2010. Una posterior disposición de la Editorial de JBAG, llevó a que el artículo fuera publicado con fecha 2009. 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.