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Relationship between congenital long QT syndrome and Brugada syndrome gene mutation / 中国医学科学院学报
Acta Academiae Medicinae Sinicae ; (6): 289-294, 2005.
Artículo en Chino | WPRIM | ID: wpr-343720
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the molecular pathology in families with long QT syndrome (LQTS) including Jervell-Longe-Nielsen syndrome (JLNS) and Romano-ward syndrome (RWS) and Brugada syndrome (BS) in Chinese population.</p><p><b>METHODS</b>Polymerase chain reaction and DNA sequencing were used to screen for KCNQ1, KCNH2, KCNE1, and SCN5A mutation.</p><p><b>RESULTS</b>We identified a novel mutation N1774S in the SCN5A gene of the BS family, a novel mutation G314S in a RWS family which had also been found in Europe, North America, and Japan, and a single nucleotide polymorphisms (SNPs) G643S in the KCNQ1 of the JLNS family. In this JLNS family, another heterozygous novel mutation in exon 2a was found in KCNQ1 of the patients.</p><p><b>CONCLUSION</b>New mutations were found in our experiment, which expand the spectrum of KCNQ1 and SCN5A mutations that cause LQTS and BS.</p>
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Linaje / Síndrome de QT Prolongado / Datos de Secuencia Molecular / Secuencia de Bases / Canales de Sodio / Síndrome de Jervell-Lange Nielsen / Síndrome de Romano-Ward / Canales de Potasio con Entrada de Voltaje / Canal de Potasio KCNQ1 / Canales de Potasio Éter-A-Go-Go Límite: Adolescente / Adulto / Femenino / Humanos / Masculino Idioma: Chino Revista: Acta Academiae Medicinae Sinicae Año: 2005 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Linaje / Síndrome de QT Prolongado / Datos de Secuencia Molecular / Secuencia de Bases / Canales de Sodio / Síndrome de Jervell-Lange Nielsen / Síndrome de Romano-Ward / Canales de Potasio con Entrada de Voltaje / Canal de Potasio KCNQ1 / Canales de Potasio Éter-A-Go-Go Límite: Adolescente / Adulto / Femenino / Humanos / Masculino Idioma: Chino Revista: Acta Academiae Medicinae Sinicae Año: 2005 Tipo del documento: Artículo