Usefulness of a CACA Repeat Polymorphism in Genotype Assignments in Duchenne/Becker Muscular Dystrophy

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.