title: Deletion screening of Sri Lankan Duchenne muscular dystrophy patients using the polymerase chain reaction.
abstract: Duchenne muscular dystrophy (DMD) is an X-chromosome-linked myopathy caused by a defect in the DMD gene. Intragenic deletions appear to be the most common gene defect leading to DMD, and the deletion frequency has been estimated to be 66%. Results of this study using a group of 24 DMD patients of Sri Lankan origin employing the technique of multiplex DNA amplification using the polymerase chain reaction indicated a deletion frequency of 62.5%. Eighty per cent of these deletions were localized in a region of the DMD gene regarded as a 'hot spot' for DMD deletions. Our results are in agreement with the results of other studies carried out on Caucasian populations.
authors.affiliation: Department of Biochemistry, Faculty of Medicine, University of Colombo, Sri Lanka.
authors.forename: J
authors.initials: J
authors.lastname: Welihinda
authors.forename: E H
authors.initials: EH
authors.lastname: Karunanayake
authors.forename: R
authors.initials: R
authors.lastname: Jayasekara
authors.forename: J B
authors.initials: JB
authors.lastname: Peiris
authors.forename: U
authors.initials: U
authors.lastname: Pettersson
authors.forename: C
authors.initials: C
authors.lastname: Wadelius
mesh_terms: D005784:Gene Amplification; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D016133:Polymerase Chain Reaction; D013188:Sri Lanka