The Carrier Detection and Genetic Counseling of Duchenne and Becker Muscular Dystrophy Using Linkage Analysis / 대한정형외과학회잡지

ABSTRACT

PURPOSE: Restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) is a widely accepted method for carrier detection of Duchenne and Becker muscular dystrophy (DMD and BMD) . This study was done to evaluate the clinical value of linkage analysis of RFLP-PCR using five polymorphic markers selected and the heterozygote frequency of those markers in DMD/BMD patients and their family members. MATERIALS AND METHODS: RFLP-PCR test was performed in twenty clinically diagnosed male DMD/BMD patients from 13 families who have been confirmed to have dystrophin gene defect from 1994 to 1997 and their 47 female family members and the results were evaluated by linkage analysis to detect carriers. RESULTS: The heterozygote frequency of pERT 87-15/XmnI, pERT87-15/BamHI, pERT87-8/TaqI, 5'-dysIII (CA) and 3'-dys (CA) markers were 55%, 49%, 45%, 32% and 26% respectively. Fourty-four (91%) out of 47 female family members had heterozygosity to at least one of those five markers. Since the obligate carriers from two families showed homozygocity to all five markers, carrier detection was possible in eleven families (85%) by the linkage analysis. CONCLUSION: RFLP-PCR using markers with high heterozygote frequency could be the first line modality of carrier detection that is crucial in genetic counseling of DMD/BMD patients and their families.