Carrier detection in Duchenne and Becker muscular dystrophy Argentine families

In order to offer carrier detection, genetic counseling, and prenatal diagn osis to families with Duchenne muscular dystrophy (DMD) and Pecker muscular dystrophy (BMD) in our country, segregation analysis of highly polymorphic short tandem repeats (STR) (dC-dA)n: (dG-dT)n loci was utilized. The risks to females of 15 DMD/BMD families (9 familial and 6 sporadic) were evaluat ed on STR, pedigree and serum creatine kinase (SCK) data. From the 36 femal es at risk of being carriers (not including 8 obligate carriers), results o f STR analysis were compatible with carrier status in 7 and not compatible in 20. In 9 females, no information regarding carriership was derived from the STR analysis. Prenatal diagnosis is now possible on the carrier females . Previously identified deletions in the central part of the gene were conf irmed by STR analysis in 3 families. Five new alleles were identified in Ar gentine individuals; allele frequencies differed from those of North Americ an people. Results derived from this study are useful for carrier detection and genetic counseling in DMD/BMD. One case of probable mosaicism in an un affected father was detected on a pedigree basis in a family with DMD patie nts.