Deletion analysis & calpain status for carrier detection in a family with Duchenne muscular dystrophy.
Artigo
em Inglês
| IMSEAR
| ID: sea-17726
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Linhagem
/
Plaquetas
/
Feminino
/
Humanos
/
Ensaio de Imunoadsorção Enzimática
/
Calpaína
/
Reação em Cadeia da Polimerase
/
Deleção de Sequência
/
Heterozigoto
/
Distrofias Musculares
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Idioma:
Inglês
Ano de publicação:
1998
Tipo de documento:
Artigo
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