Carrier Diagnosis of Duchenne Muscular Dystrophy Using Fluorescent CA Repeat Polymorphism

The diagnostic efficacy was compared between the fluorescent CA repeat polymorphism analysis and polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) analysis for carrier diagnosis of Duchenne muscular dystrophy. Nine females from seven pedigrees were examined. Polymorphic alleles were examined by the fluorescent labelling method in eight loci within the dystrophin gene. PCR‐RFLP analysis was performed in a total of six loci within the dystrophin gene. Carrier diagnosis could not be made in three females of two pedigrees due to an inability to detect polymorphic alleles by PCR‐RFLP. In contrast, CA repeat polymorphism analysis allowed successful carrier diagnosis in nine subjects. These findings suggest that the fluorescent CA repeat polymorphism analysis provides a simple, safe and effective alternative to PCR‐RFLP analysis for carrier diagnosis of Duchenne muscular dystrophy.