Deletion analysis & calpain status for carrier detection in a family with Duchenne muscular dystrophy.
Artículo
en Inglés
| 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:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Linaje
/
Plaquetas
/
Femenino
/
Humanos
/
Ensayo de Inmunoadsorción Enzimática
/
Calpaína
/
Reacción en Cadena de la Polimerasa
/
Eliminación de Secuencia
/
Heterocigoto
/
Distrofias Musculares
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Idioma:
Inglés
Año:
1998
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS