KCNQ1, KCNH2, KCNE1 and KCNE2 potassium channels gene variants in sudden manhood death syndrome / 法医学杂志
Journal of Forensic Medicine
;
(6): 337-346, 2012.
Artículo
en Chino
| WPRIM
| ID: wpr-983757
ABSTRACT
OBJECTIVE@#To investigate KCNQ1, KCNH2, KCNE1 and KCNE2 gene variants in the cases of sudden manhood death syndrome (SMDS).@*METHODS@#One hundred and sixteen sporadic cases of SMDS and one hundred and twenty-five healthy controlled samples were enrolled. Genomic DNA was extracted from blood samples. Gene variants of KCNQ1, KCNH2, KCNE1 and KCNE2 were screened by direct sequencing.@*RESULTS@#A total of 14 mutations and 14 SNP were detected. Two non-synonymous mutations of them were newfound. There was no non-synonymous mutation found in the control group.@*CONCLUSION@#There are KCNQ1, KCNH2, KCNE1 and KCNE2 gene variants found in Chinese SMDS cases. KCNQ1, KCNH2, KCNE1 and KCNE2 gene mutation may correlate partly with the occurrence of some cases of the SMDS in China.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Síndrome de QT Prolongado
/
Análisis Mutacional de ADN
/
Secuencia de Bases
/
Canales de Potasio
/
Estudios de Casos y Controles
/
China
/
Polimorfismo de Nucleótido Simple
/
Canales de Potasio con Entrada de Voltaje
/
Muerte Súbita
/
Canal de Potasio KCNQ1
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Journal of Forensic Medicine
Año:
2012
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS