Deletion screening of Sri Lankan Duchenne muscular dystrophy patients using the polymerase chain reaction

Ann Trop Paediatr. 1993;13(1):83-6. doi: 10.1080/02724936.1993.11747629.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gene Amplification
  • Gene Deletion*
  • Humans
  • Male
  • Muscular Dystrophies / genetics*
  • Polymerase Chain Reaction
  • Sri Lanka