De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases

다국어 초록 (Multilingual Abstract)

Dinucleotide repeat polymorphism based genetic analysis is a powerful approach to gain insight and de novo mutations. The los of heterozygosity of polymorphic dinucleotide loci at "deletional hotspot" of dystrophin gene can provide direct evidence of carier status in female relatives of af-fected DMD patients with overlaped exonic dele-tions. We have used 4 STR loci of the central deletional hotspot of the dystrophin gene for gen-etic analysis in sporadic unrelated DMD families. Twenty-nine mothers of sporadic deletional cases were analysed and their carrier status was deter-the deleted loci suggesting the occurrence of de novo mutations. In 9 cases, the carrier status was indeterminate while 2 showed germline mosaicism. Our observations reiterated the importance of STR analysis in determining the status of mothers of sporadic deletional DMD cases in order to provide proper genetic counselling.