An informative polymorphism detectable by polymerase chain reaction at the 3' end of the dystrophin gene

Hum Genet. 1990 Feb;84(3):283-5. doi: 10.1007/BF00200576.

Abstract

A fragment that contains a (CA)n sequence from the 3' untranslated region of the dystrophin gene can be amplified by the polymerase chain reaction and shows length polymorphism in a Caucasian population. The two common alleles differ by 4bp. This new genetic marker has a heterozygosity of about 35% and is typed more rapidly than a conventional restriction fragment length polymorphism. Its localisation at the 3' end of the dystrophin gene makes it a useful tool for diagnostic applications in families with Duchenne/Becker muscular dystrophy, and for the analysis of intragenic recombination.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA / genetics
  • Dystrophin
  • Genetic Markers
  • Humans
  • Molecular Sequence Data
  • Muscle Proteins / genetics*
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics
  • Oligonucleotide Probes
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length*

Substances

  • Dystrophin
  • Genetic Markers
  • Muscle Proteins
  • Oligonucleotide Probes
  • DNA