Objective: To analyze the gene mutations on the cardiac sodium channel gene SCN5A in a Chinese family with Brugada syndrome.
Method: 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.
Result: 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.
Conclusion: We detected a reported polymorphism site (A29A) and a novel missense mutation (Y1494N) on SCN5A in this Chinese family with Brugada syndrome.