Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online

Hum Mutat. 1999;13(2):173. doi: 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU20>3.0.CO;2-3.

Abstract

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked neuromuscular disorders associated with alterations in the dystrophin gene. Analysis of 45 DMD/BMD patients has identified 18 patients with no deletion in the dystrophin gene. Heteroduplex analysis (HD), single strand conformation analysis (SSCA), and subsequent sequencing, identified five mutations and nine polymorphisms. Three out of the 5 mutations (780C>G, 2501-1g-->t, 9812 9813ins9800-9812) are first reported here. Furthermore we compare the relative efficiencies of the two alternatives methods (HD and SSCA) for screening sequence alterations.

MeSH terms

  • Dystrophin / genetics*
  • Genetic Linkage / genetics*
  • Genetic Testing
  • Humans
  • Muscular Dystrophies / genetics
  • Mutation / genetics*
  • Nucleic Acid Heteroduplexes / genetics*
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational

Substances

  • Dystrophin
  • Nucleic Acid Heteroduplexes