Diagnosis of Duchenne and Becker muscular dystrophies by DNA polymorphism.

Abstract

Twenty families affected with Duchenne (DMD) or Becker (BMD) muscular dystrophy from the Japanese population were investigated using six DNA polymorphisms at the pERT87 locus. Allele frequencies for these polymorphisms were different from those found in Caucasians and 94% of unrelated women were informative for linkage analysis. DMD and BMD phenotypes cosegregated with a particular allele in each family with no obligate recombinants among 50 meiotic events. Among 20 unrelated affected males, one boy had a deletion of at least 52 kilobases (kb) surrounding the pERT87 region.