Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

Nucleic Acids Res. 1988 Dec 9;16(23):11141-56. doi: 10.1093/nar/16.23.11141.

Abstract

The application of recombinant DNA technology to prenatal diagnosis of many recessively inherited X-linked diseases is complicated by a high frequency of heterogeneous, new mutations (1). Partial gene deletions account for more than 50% of Duchenne muscular dystrophy (DMD) lesions, and approximately one-third of all cases result from a new mutation (2-5). We report the isolation and DNA sequence of several deletion prone exons from the human DMD gene. We also describe a rapid method capable of detecting the majority of deletions in the DMD gene. This procedure utilizes simultaneous genomic DNA amplification of multiple widely separated sequences and should permit deletion scanning at any hemizygous locus. We demonstrate the application of this multiplex reaction for prenatal and postnatal diagnosis of DMD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Deletion*
  • Cloning, Molecular
  • DNA / isolation & purification
  • Female
  • Gene Amplification*
  • Humans
  • Male
  • Molecular Sequence Data
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics*
  • Prenatal Diagnosis / methods

Substances

  • DNA

Associated data

  • GENBANK/X13045
  • GENBANK/X13046
  • GENBANK/X13047
  • GENBANK/X13048