Deletion analysis & calpain status for carrier detection in a family with Duchenne muscular dystrophy.

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dc.contributor.authorHussain, Ten_US
dc.contributor.authorDevi, N Gen_US
dc.contributor.authorKumari, C Ken_US
dc.contributor.authorAnandaraj, M Pen_US
dc.date.accessioned1998-09-03en_US
dc.date.accessioned2009-05-27T06:44:53Z
dc.date.available1998-09-03en_US
dc.date.available2009-05-27T06:44:53Z
dc.date.issued1998-09-03en_US
dc.description.abstractEight 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.en_US
dc.description.affiliationInstitute of Genetics & Hospital for Genetic Diseases, Osmania University, Hyderabad.en_US
dc.identifier.citationHussain 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(): 93-7en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/17726
dc.language.isoengen_US
dc.source.urihttps://icmr.nic.in/ijmr/ijmr.htmen_US
dc.subject.meshBlood Platelets --physiologyen_US
dc.subject.meshCalpain --geneticsen_US
dc.subject.meshEnzyme-Linked Immunosorbent Assayen_US
dc.subject.meshFemaleen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshMuscular Dystrophies --geneticsen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshSequence Deletionen_US
dc.titleDeletion analysis & calpain status for carrier detection in a family with Duchenne muscular dystrophy.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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