[Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome].
OBJECTIVE
To analyze the gene mutations on the cardiac sodium channel gene SCN5A in a Chinese family with Brugada syndrome.


METHODS
Polymerase chain reaction and DNA sequencing were used to screen gene mutations on the cardiac sodium channel gene SCN5A in all family members of a Chinese pedigree with Brugada syndrome, single strand conformation polymorphism analysis were performed in 136 normal controls to detect the mutations of SCN5A gene.


RESULTS
Two heterozygosis mutations, which include a missense mutation (Y1494N) and a same sense mutation (A29A), were identified on SCN5A gene in the proband with Brugada syndrome and these mutations were not detected in other family members with Brugada syndrome and in controls.


CONCLUSIONS
We detected a reported polymorphism site (A29A) and a novel missense mutation (Y1494N) on SCN5A in this Chinese family with Brugada syndrome.
Tian
Li
L
Institute of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Zhu
Jian-Fang
JF
Yang
Jun-Guo
JG
D000328:Adult; D044466:Asian People / Q000235:genetics; D053840:Brugada Syndrome / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D015222:Sodium Channels / Q000235:genetics*
D009124:Muscle Proteins; D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels