DELETION ANALYSIS AND CALPAIN STATUS FOR CARRIER DETECTION IN A FAMILY WITH DUCHENNE MUSCULAR-DYSTROPHY

Eight females with a family history of Duchenne muscular dystrophy (DM D) were analysed for their carrier status by m-calpain test, which mon itors the m-calpain (milli-calpain), a proteolytic enzyme in the plate lets, using an ELISA technique. Four of the eight females were identif ied as carriers by virtue of their elevated enzyme levels as compared to control. DNA samples of these members were analysed to ascertain th e carrier status, by PCR followed by dosage analysis by densitometry. DNA analysis confirmed the findings by calpain test, which underlines the reliability of this phenotypic test for carrier detection in DMD. Calpain test has been informative in a large group of patients and car riers tested so far. Since the calpain test is cost and labour effecti ve, it is suited for routine and widespread screening purposes.