The mutation V781I in SCN4A gene exists in Chinese patients with normokalemic periodic paralysis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 566-569, 2004.
Artículo
en Chino
| WPRIM
| ID: wpr-321194
ABSTRACT
<p><b>OBJECTIVE</b>In this report are reviewed two unrelated patients with typical normokalemic periodic paralysis (normoKPP) features and the results of screening the SCN4A gene for the disease-related mutation.</p><p><b>METHODS</b>Two sporadic cases with normoKPP were screened for previously known mutations in SCN4A gene (T704M, A1156T, M1360V, I1495F, M1592V) that lead to hyperKPP; denaturing high performance liquid chromatography (DHPLC) was used. Then the rest exons of SCN4A gene were screened by DHPLC, and sequence analysis was performed on those with DHPLC chromatogram variation when compared with unaffected control.</p><p><b>RESULTS</b>Two cases and one patient's father were detected with V781I, which was proved to be a singular missense mutation in SCN4A gene.</p><p><b>CONCLUSION</b>The mutation V781I exists in Chinese patients with normoKPP and may be responsible for normoKPP.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Parálisis Periódicas Familiares
/
ADN
/
Datos de Secuencia Molecular
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Secuencia de Bases
/
Canales de Sodio
/
Exones
/
Cromatografía Líquida de Alta Presión
/
Secuencia de Aminoácidos
/
Análisis de Secuencia de ADN
/
Mutación Puntual
Límite:
Adulto
/
Niño
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2004
Tipo del documento:
Artículo
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