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目的 研究探索中国人Brugada综合征是否存在基因突变及突变类型 ,并分析突变可能的致病机制。方法 以SCN5A作为候选基因 ,应用PCR SSCP技术对 4例患者及其家系成员进行突变检测 ,并用DNA直接测序验证。结果 SSCP分析在一个家系内发现SCN5A基因第 8外显子PCR产物出现异常带型 ,而在 2 0 0例正常对照者中均未发现此改变。DNA直接测序显示SCN5A编码区第317位密码子的第三位碱基G→C的错义突变 ,并导致位于DⅠS5与DⅠS6节段之间与钠通道蛋白“孔”区相关的第一个P Loop结构上一个赖氨酸 (K)被天冬酰胺 (N)取代 (K317N)。一个家系调查表明 ,2 1例家系成员中共有 10例携带者 ,其中有症状者 (4例 )均为携带者 ,2例无症状携带者有心电图改变 ,隐性携带者占 4 0 %。结论 在中国人中发现了Brugada综合征一个新的SCN5A基因突变。
Objective To explore whether there are gene mutation and mutation types in Chinese Brugada syndrome and to analyze the possible pathogenesis of mutation. Methods SCN5A was used as a candidate gene. PCR SSCP was used to detect mutations in four patients and their pedigrees, and verified by DNA direct sequencing. Results SSCP analysis showed that there was an abnormal band pattern in the SCN5A gene exon 8 in one pedigree, but not in 200 normal controls. DNA direct sequencing revealed a missense mutation at the third base G → C of codon 317 in the SCN5A coding region and resulted in the first P located in the “pore” region of the sodium channel protein located between the D5S and D6S6 segments One lysine (K) on Loop has been replaced by asparagine (N) (K317N). A pedigree survey showed that there were 10 carriers in 21 family members, of whom 4 were carriers and 2 asymptomatic carriers had electrocardiographic changes. The number of implicit carriers was 40%. Conclusions A new SCN5A gene mutation in Brugada syndrome was found in Chinese.