title: 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.
authors.affiliation: Dept of Biochemistry & Molecular Biology, Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India. mpjs@anandaraj@gmail.com
authors.forename: V
authors.initials: V
authors.lastname: Mohana Rao
authors.forename: K
authors.initials: K
authors.lastname: Sridevi
authors.forename: M P J S
authors.initials: MP
authors.lastname: Anandraj
mesh_terms: D001792:Blood Platelets / Q000378:metabolism*; D002154:Calpain / Q000097:blood / Q000235:genetics*; D002353:Carrier State / Q000097:blood / Q000201:enzymology*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D020388:Muscular Dystrophy, Duchenne / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D004247:DNA; D002154:Calpain; C449000:m-calpain