GERMLINE AND SOMATIC MOSAICISM IN A FEMALE CARRIER OF DUCHENNE MUSCULAR-DYSTROPHY

The family of a male with Duchenne muscular dystrophy (DMD) and a dele tion within the dystrophin gene has been studied. Polymerase chain rea ction analysis of ectopic mRNA from peripheral blood T+B lymphocytes a nd the use of (CA)(n) repeat polymorphisms in and around the deleted r egion showed the proband's mother to be both a germline mosaic and a s omatic mosaic for the deletion seen in her son. The mutation therefore occurred as a mitotic event early in embryogenesis.