“CARRIER DETECTION IN DUCHENNE AND BECKER MUSCULAR DYSTROPHY IN ARGENTINIAN FAMILIES USING STR-(CA)n POLYMORPHISMS”

BARANZINI SERGIO; GILIBERTO FLORENCIA; DALAMÓN VIVIANA; BARRIERO CRISTINA; GARCÍA ERRO MARCELA; SZIJAN IRENE

CLINICAL GENETICS

WILEY-BLACKWELL PUBLISHING, INC

Año: 1998 vol. 54 p. 503 - 511

0009-9163

In order to offer carrier detection, genetic counseling. and prenatal diagnosis to families with Duchenne muscular dystrophy (DMD) and Becker 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 evaluated on STR, pedigree and serum creatine kinase (SCK) data. From the 36 females at risk of being carriers (not including 8 obligate carriers), results of 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 confirmed by STR analysis in 3 families. Five new alleles were identified in Argentine individuals: allele frequencies differed from those of North American people. Results derived from this study are useful for carrier detection and genetic counseling in DMD BMD. One case of probable mosaicism in an unaffected father was detected on a pedigree basis in a family with DMD patients.