Carrier detection of Duchenne/Becker muscular dystrophy: computer-assisted direct quantitation of gene amplification products

Brain Dev. 1992 Mar;14(2):80-3. doi: 10.1016/s0387-7604(12)80090-8.

Abstract

An improved method by quantitative dystrophin gene deletion analysis was developed for the detection of Duchenne/Becker muscular dystrophy (DMD/BMD) carriers. Exon 52, which had been found to be deleted in DMD probands, was amplified for female family members, together with exon 60 as a reference, at the exponential phase of polymerase chain reaction. The products were separated by electrophoresis, the band intensities on gel photographs were quantitated, and the target/control ratios were calculated. The values for three heterozygous mothers were approximately half those for normal individuals and two definite non-heterozygous mothers. This procedure is easy, rapid and useful for the carrier diagnosis of DMD/BMD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Diagnosis, Computer-Assisted
  • Exons
  • Female
  • Gene Amplification*
  • Genetic Carrier Screening*
  • Humans
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics*
  • Polymerase Chain Reaction