Direct deletion analysis and carrier detection in D/BMD families

Abstract

Objective. Duchenne/Becker muscular dystrophy (D/BMD) is an X-linked lethal disorder which affects 1 in 3,500 boys. The reported study summarizes the results of our molecular studies in D/BMD families.

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Methods. Altogether 280 Duchenne & 28 Becker muscular dystrophy patients were subjected to the multiplex PCR (8 exons in 5’ & 13 exons in 3’ deletion hotspots) for direct identification of dystrophin gene deletions. Analysis of highly polymorphic short tandem repeats (STR-44, 45, 49, 50) in dystrophin gene was utilized for carrier detection in D/BMD families.

Results. A ratio of Duchenne and Becker forms of muscular dystrophy in our cohort of patients of the patients was 91% and 9% respectively. Altogether 131 dystrophin gene deletions were identified. They include 76% (99) in З'-region, 22% (29) in 5’-region. Deletions extended 5' & 3' regions both were found in three cases. Total 39 prenatal diagnoses were carried out in families with D/BMD resulted in 12 preventions of birth. The rate of heterozygosity of STR’s was found 89.3%. Diagnoses without affected individual were made in 5 families by means of STR analysis.

Conclusions. The molecular technique elaborated and used in this study is very efficient for direct mutation detection in dystrophin gene and thus it is rather important for improved genetic counseling, carrier detection and prenatal diagnostic in D/BMD families.