Study on relationship between Arg778Leu/Gln gene mutation spot in ATP7B and TCM syndrome type in Chinese patients with Wilson disease / 中国中西医结合杂志
Chinese Journal of Integrated Traditional and Western Medicine
;
(12): 280-282, 2002.
Artículo
en Chino
| WPRIM
| ID: wpr-264164
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the relationship between Arg778Leu/Gln gene mutation spot in ATP7B and TCM Syndrome type in Chinese patients with Wilson disease (WD).</p><p><b>METHODS</b>Exon 8 of ATP7B of 90 WD patients and 30 healthy controls were amplified by PCR and analysed by restriction enzyme Msp I, the TCM Syndrome type of the patients was differentiated at the same time.</p><p><b>RESULTS</b>In the 90 WD patients, 34 with Arg778Leu/Gln of exon 8 were detected, among them 20 cases belonged to the TCM Syndrome type of endogenous Liver-Wind agitation.</p><p><b>CONCLUSION</b>Onset age of WD patients with Arg778Leu/Gln mutation is later than that without this mutation. Arg778Leu/Gln mutation might be related to the TCM Syndrome type of endogenous Liver-Wind agitation.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Arginina
/
Exones
/
Mutación Puntual
/
Adenosina Trifosfatasas
/
Proteínas de Transporte de Catión
/
Pueblo Asiatico
/
Diagnóstico
/
Diagnóstico Diferencial
/
ATPasas Transportadoras de Cobre
Tipo de estudio:
Estudio diagnóstico
Límite:
Adolescente
/
Niño
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Integrated Traditional and Western Medicine
Año:
2002
Tipo del documento:
Artículo
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