[Mutation analysis of a Chinese family with inherited long QT syndrome].

To identify the mutation of a Chinese family with inherited long QT syndrome(LQTS).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.A missense mutation G940A(G314S) in the KCNQ1 gene was identified, which was the 'hot spot' of long QT syndrome mutation.The mutation that is involved with long QT syndrome in Chinese patients is the same as that in the European, American and Japanese patients.