title: Molecular deletion patterns in Duchenne and Becker muscular dystrophy patients from KwaZulu Natal.
abstract: There exists much phenotypic heterogeneity in Duchenne muscular dystrophy and its allelic variant, Becker muscular dystrophy. The molecular findings on 53 patients with Duchenne and 15 patients with Becker type muscular dystrophy in KwaZulu Natal, South Africa are reported. Multiplex PCR was performed using primers targeting 18 hot-spot exons throughout the dystrophin gene. Analysis of the multiplex PCR data revealed that 39/68 (57.0%) patients included in the study showed a deletion (33 DMD and 6 BMD patients). Twenty-five patients were Black, 4 were White and 10 were Indian. Using the Chamberlain and Beggs multiplex PCR assays, the region of the genome most frequently affected by a deletion includes exons 47-51. The distal region of the dystrophin gene was most frequently affected by the deletion in both Black and Indian patients. There were too few White patients for conclusions to be drawn concerning the most frequently affected part of the gene. Although the numbers are insufficient to determine whether ethnic differences are present, the Chamberlain and Beggs multiplex PCR assays detect deletions with the same frequency in South African DMD/BMD patients as that reported in the literature.
authors.affiliation: Neuroscience Laboratory, Department of Neurology, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa.
authors.forename: K D
authors.initials: KD
authors.lastname: Hallwirth Pillay
authors.forename: P L A
authors.initials: PL
authors.lastname: Bill
authors.forename: S
authors.initials: S
authors.lastname: Madurai
authors.forename: L
authors.initials: L
authors.lastname: Mubaiwa
authors.forename: P
authors.initials: P
authors.lastname: Rapiti
mesh_terms: D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D013019:South Africa / Q000453:epidemiology / Q000208:ethnology
chemical_list: D016189:Dystrophin