Background: Recent methodological advances have improved the detection rate for Dystrophin mutations, but there are no published studies that have measured the clinical utility of these protocols for carrier detection compared with conventional carrier testing by pedigree, serum creatine kinase levels and linkage analysis.
Methods and Subjects: We measured the clinical utility ofa combined mutation detection protocol, involving quantitative PCR procedures followed by DNA sequence analysis, for the identification of Dystrophin mutation carriers in 2101 women at risk of being carriers from 348 mutation known Duchenne or Becker muscular dystrophy pedigrees.
Results: The combined mutation detection protocol identified a mutation in 96% and 82% of index cases of DMD and BMD respectively. An additional 692 (33%) potential carriers were correctly classified by the combined mutation detection protocol compared with pedigree, CK levels and linkage analysis. Significantly lower mutation carrier rates were identified in the mothers of index cases with deletion mutations than predicted from theoretical considerations but these findings were not confirmed for duplication and DNA sequence mutations.
Conclusions: There are significant clinical benefits to be gained from a combined mutation detection protocol for carrier detection. Genetic counseling practice should take into account mutation specific carrier frequencies for the different classes of Dystrophin mutations.
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