Detección de portadoras de distrofia muscular de Duchenne en familias colombianas mediante análisis de microsatélites

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.