[Mutation analysis of a Chinese family with inherited long QT syndrome].
OBJECTIVE
To identify the mutation of a Chinese family with inherited long QT syndrome(LQTS).


METHODS
The 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.


RESULTS
A missense mutation G940A(G314S) in the KCNQ1 gene was identified, which was the 'hot spot' of long QT syndrome mutation.


CONCLUSIONS
The mutation that is involved with long QT syndrome in Chinese patients is the same as that in the European, American and Japanese patients.
Du
Rong
R
Department of Cardiology, Cardiovascular Disease Institute, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430022 PR China.
Yang
Jun-guo
JG
Li
Wei
W
Gui
Le
L
Yuan
Guo-hui
GH
Kang
Cai-lian
CL
Ren
Fa-xin
FX
Zhang
Shou-yan
SY
D002681:China; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction
D051657:KCNQ1 Potassium Channel