Duchenne muscular dystrophy (DMD) is a neuromuscular-degenerative fatal disorder caused by mutations in the dystrophin gene. The incidence rate is one in 3300 live male births in every part of the world. A study into the detection of true carriers of DMD has been performed using gene deletion and non-deletion cases to devise a reliable and cost-effective diagnosis of DMD. The study uses a sample of 130 people (70 males and 60 females), consisting of 105 risk patients (60 male and 45 female) and 25 patients from normal carrying families, analyzed by CPK, M-PCR, Q-PCR and STR. This study aims to perform diagnosis of non-deletional and true carriers of DMD by enzyme-linked immunosorbent assay (ELISA), assessing the amount of m-calpain in the platelets of participants. In order to diagnose DMD patients, true carriers and controls, an ELISA has been standardized using polyclonal antibodies raised against m-calpain purified from human placenta. From the sample group, 45 at risk females were analyzed for m-calpain by quantitative ELISA. It was found that 90% of tests were informative, showing enhanced levels of m-calpain when compared to controls. The quantitative ELISA has proved to be an accurate, reliable, rapid and cost-effective test for DMD patients and true carriers, and also useful for the prenatal diagnosis.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.