Mutation analysis of a Chinese family with inherited long QT syndrome.
- Author:
Rong DU
1
;
Jun-guo YANG
;
Wei LI
;
Le GUI
;
Guo-hui YUAN
;
Cai-lian KANG
;
Fa-xin REN
;
Shou-yan ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: China; DNA Mutational Analysis; Family Health; Female; Genetic Predisposition to Disease; genetics; Genotype; Humans; KCNQ1 Potassium Channel; genetics; Long QT Syndrome; diagnosis; genetics; Male; Mutation, Missense; Pedigree; Polymerase Chain Reaction
- From: Chinese Journal of Medical Genetics 2005;22(1):68-70
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the mutation of a Chinese family with inherited long QT syndrome(LQTS).
METHODSThe disease-causing gene was tentatively determined in light of the clinical manifestations and electrophysiological properties, and then polymerase chain reaction and DNA sequencing were used for screening and identifying mutation.
RESULTSA missense mutation G940A(G314S) in the KCNQ1 gene was identified, which was the 'hot spot' of long QT syndrome mutation.
CONCLUSIONThe mutation that is involved with long QT syndrome in Chinese patients is the same as that in the European, American and Japanese patients.
