Indentity a new gome mutatirn in a chinese family with long QT syndrome

Objective:To identify the gene mutation in a Chinese family with inherited long QT syndrome(LQTS) and search for a new way to verify the gene mutation.Method:Polymerase chain reaction(PCR) and DNA sequencing were used to screen for KCNH2 mutation in proband.After mutational site was found,family members were screened by special primer and multiplex PCR.Result:A novel heterozygous missense mutation F463L located at transmembrane domain S2 of HERG was found.Mutation carriers were all indentified.Conclusion:The study not only made gene bank coded ion channels abundant which cause LQTS,but also found a new way to screen LQTS family.