To diagnosis 85 Duchene/Becker muscular dystrophy Vietnamese patients by Polymerase chain reaction (PCR) method

ABSTRACT

AND samples of 85 Duchenne/Becker muscular dystrophy patients treated at Department of Endocrinology, Pediatric Hopital Swede-Ha Noi were analyzed. Patients were diagnosed based on typical clinical characteristic of disease, increasing plasma CK concentration and family prehistory. The result showed that mutation is quite common, concentrating mainly at 5’ final region and central region, analyzing 19 exons among 79 exons of total dystrophin gene have been detected nearly 40% patient with mutation of wipe section. Appling PCR method to determine mutation on 19 typical exons will allow fastly and exactly diagnosis