Deletion analysis & calpain status for carrier detection in a family with Duchenne muscular dystrophy.
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1998-09-03
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Abstract
Eight females with a family history of Duchenne muscular dystrophy (DMD) were analysed for their carrier status by m-calpain test, which monitors the m-calpain (milli-calpain), a proteolytic enzyme in the platelets, using an ELISA technique. Four of the eight females were identified as carriers by virtue of their elevated enzyme levels as compared to control. DNA samples of these members were analysed to ascertain the 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 carriers tested so far. Since the calpain test is cost and labour effective, it is suited for routine and widespread screening purposes.
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Hussain T, Devi NG, Kumari CK, Anandaraj MP. Deletion analysis & calpain status for carrier detection in a family with Duchenne muscular dystrophy. Indian Journal of Medical Research. 1998 Sep; 108(): 93-7