Brugada综合征相关基因SCN5A新突变位点的检测

目的 研究中国人Brugada综合征相关基因SCN5A突变情况。方法 利用多聚酶链反应及DNA测序对1个Brugada综合征家系SCN5A基因的全部28个外显子进行基因检测。结果 在国内外已知突变点均无突变，发现1个新的错义突变位点(A5471G)，其相应的氨基酸改变为N1774S。结论 在中国人Brugada综合征患者的SCN5A基因上发现1个新的突变位点。

The novel SCN5A mutation of Brugada syndrome in a Chinese male patient

Objective Brugada syndrome is an inherited cardiac disorder characterized by right bundle branch block(RBBB),elevation of the ST segment in lead V_1 through V_3 on the electrocardiogram(ECG) and ventricular fibrillation(VF)that may lead to sudden death.The incidence of Brugada syndrome in Asian males is the greatest.Until now,Brugada syndrome has been associated with only one gene--SCN5A,which encodes the alpha-subunit of human cardiac voltage-gated sodium channel and is located on chromosomes 3.We investigate mutation of SCN5A gene in Chinese Brugada syndrome.Method One Chinese family with Brugada syndrome was brought together for screening for SCN5A gene mutation.Genomic DNA from everyone was extracted from peripheral blood leukocytes.All 28 exons of SCN5A were amplified by polymerase chain reaction (PCR) using 34 pairs primers.The PCR products were sequenced directly.Results A new mutation, N1774S(A5471G),was found,and was not present in unaffected family members or in 100 unrelated normal individuals.Conclusion We presume this mutation is associadted with Brugada syndrome,because it is segregated from patients and is not found in normal individuals.This mutation may result in reducing sodium channel current density,thereby leading to Brugada syndrome.Genetic heterogeneity in Chinese Brugada syndrome may be exist.