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.
Article
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Syndrome du QT long
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Canaux sodiques
/
Syndrome de Jervell et Lange Nielsen
/
Syndrome de Romano-Ward
/
Canaux potassiques voltage-dépendants
/
Canal potassique KCNQ1
/
Canaux potassiques éther-à-go-go
Limites du sujet:
Adolescent
/
Adulte
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Acta Academiae Medicinae Sinicae
Année:
2005
Type:
Article
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