DUCHENNE MUSCULAR-DYSTROPHY IMMUNOHISTOCHEMISTRY OF FETAL MUSCLES

Between 1989 and 1991, we realized 36 prenatal DNA diagnoses in 23 fam ilies at risk for Duchenne muscular dystrophy (DMD). The families were previously analyzed using multiplex polymerase chain reaction (PCR) a nalysis, Southern blot hybridization with cDNA markers, pulse field ge l electrophoresis (PFGE) and linkage studies with polymorphic DNA mark ers. Eighteen male foetuses were examined and seven were found to be a ffected Immunohistochemistry (IHC) of muscle tissue was realized after abortion in four foetuses aged 12 to 22 weeks. Three age-matched cont rols were used Poly- and monoclonal antibodies against different epito pes of dystrophin were used. A polyclonal spectrin antibody was utiliz ed to check for membrane integrity. DNA analysis of chorion villi had demonstrated an out of frame deletion in all four foetuses, later conf irmed on abortion material. The different epitopes of dystrophin were absent on immunohistochemical sections while they were present in cont rol cases. Spectrin was present in patients as well as in controls. IH C can be used to confirm the results of DNA diagnosis of DMD in foetus es.