Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy

M. Miller, C. Boehm, M. Cotton, H. H. Kazazian

Research output: Contribution to journalArticle


RFLP analysis in Duchenne/Becker muscular dystrophy (D/BMD) has been limited by the lack of informative marker loci at the 3' end of the dystrophin gene. Recently a CACA repeat polymorphism was described in the 3' untranslated end of the dystrophin gene which we have found helpful in genotype assignments of D/BMD families when an RFLP approach is required. The CACA repeat marker has 2 common alleles (1 and 2) that are easily visualized by a nonradioactive PCR method followed by polyacrylamide gel electrophoresis. We present 2 families which demonstrate the use of this polymorphism. Since 35-50% of females are heterozygous, this locus is a useful marker in RFLP analysis of D/BMD families.

Original languageEnglish (US)
Pages (from-to)473-476
Number of pages4
JournalAmerican journal of medical genetics
Issue number4
StatePublished - Nov 6 1992



  • Becker muscular dystrophy
  • CACA repeat
  • Duchenne muscular dystrophy
  • VNTR

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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