Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 361-363, 2005.
Artículo
en Inglés
| WPRIM
| ID: wpr-280051
ABSTRACT
<p><b>OBJECTIVE</b>To study the characteristics of the mutation of small heat-shock protein 22 (HSP22) gene in Chinese patients with Charcot-Marie-Tooth (CMT) disease.</p><p><b>METHODS</b>A CMT2L proband with 423(G--> T) mutation in HSP22 gene had been studied and reported by the present authors. In this study, mutation analysis of HSP22 gene was performed using polymerase chain reaction and DNA direct sequencing in 114 CMT probands.</p><p><b>RESULTS</b>In the 114 CMT probands, a 582(C--> T)(T194T)samesense mutation was found in two unrelated families.</p><p><b>CONCLUSION</b>The rate of HSP22 gene mutation in Chinese patients with CMT is as low as 0.87%(1/115).</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Análisis Mutacional de ADN
/
Enfermedad de Charcot-Marie-Tooth
/
China
/
Reacción en Cadena de la Polimerasa
/
Pueblo Asiatico
/
Etnología
/
Proteínas de Choque Térmico Pequeñas
/
Genética
/
Mutación
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Chinese Journal of Medical Genetics
Año:
2005
Tipo del documento:
Artículo
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