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.
Artigo
em Chinês
| 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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Síndrome do QT Longo
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Canais de Sódio
/
Síndrome de Jervell-Lange Nielsen
/
Síndrome de Romano-Ward
/
Canais de Potássio de Abertura Dependente da Tensão da Membrana
/
Canal de Potássio KCNQ1
/
Canais de Potássio Éter-A-Go-Go
Limite:
Adolescente
/
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Acta Academiae Medicinae Sinicae
Ano de publicação:
2005
Tipo de documento:
Artigo
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