%0 Journal Article
%T Detecci¨®n de portadoras de distrofia muscular de Duchenne en familias colombianas mediante an¨¢lisis de microsat¨¦lites
%A Fonseca
%A Dora
%A Silva
%A Claudia Tamar
%A Mateus
%A Heidi
%J Colombia M¨¦dica
%D 2008
%I Scientific Electronic Library Online
%X introduction: the muscular dystrophies of duchenne and becker are x-linked recessive neuromuscular disorders; the carrier testing protocols include mutation detection or linkage analysis. objective: the aim of this investigation was to use the segregation analysis of str loci to determine the carrier status in 37 families with dmd/dmb. methods: from 37 families 174 individuals were studied through segregation of 10 intra and extragenic short tandem repeats (str) in the members of the family. results: the carrier status of 89.2% women of the tested group could be assigned by linkage analysis, 65.7% carriers and 23.5% non-carriers conclusions: linkage analysis was proven to be a powerful tool for the carrier detection in dmd/bmd and should be taken into account in genetic counselling practice.
%K duchenne
%K carrier
%K diagnostic
%K colombia
%K str.
%U http://www.scielo.org.co/scielo.php?script=sci_abstract&pid=S1657-95342008000600002&lng=en&nrm=iso&tlng=en