Platelet m-calpain: a facile marker and STR polymorphism analysis for the identification of true carriers of Duchenne muscular dystrophy

Abstract

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.