Detection of Brugada syndrome related SCN5A gene mutation point in a Chinese large family

Objective:To study Brugada syndrome related SCN5A gene mutations in a Chinese large family.Methods:Clinical data of a family(n=43) with Brugada syndrome were collected.Polymerase chain reaction and DNA direct sequencing method were used to detect SCN5A gene mutations in the family,and single strand conformation polymorphism(SSCP) analysis was used to detecting the mutations of SCN5A gene in 126 healthy controls outside the family.Results:A heterozygous mutation was found in Brugada family,namely a missense variation(A1685G) was found at 12th exon of SCN5A gene,leading to 558th codon standing for histidine mutated to arginine(H558R).Conclusion:An already reported missense polymorphism site(H558R) is found in SCN5A gene in Chinese patients with Brugada syndrome.