Preimplantation Diagnosis of Duchenne Muscular Dystrophy

Abstract

Duchenne muscular dystrophy (DMD), caused by mutations of the dystrophin gene, is a severe X-linked recessive neuromuscular disorder. Preimplantation diagnosis of DMD includes three approaches. The first approach is gender determination of embryos by either polymerase chain reaction (PCR) or the fluorescence in situ hybridization (FISH)-based method. While each method is well established, the FISH method has some advantages over PCR in gender determination. The second approach is diagnosis of specific gene mutation. The partial deletions are diagnosed by the PCR with primers constructed to amplify the deletion exons. The partial duplication cannot be detected by now available strategies. The small mutations can be diagnosed by the specific PCR based assay. The third approach is linkage analysis by means of linked markers. CA repeats have been shown to be highly polymorphic and to be of great diagnostic utility because they can be easily assayed by PCR.