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目的:确定引起长QT综合征的基因突变位点,同时寻找鉴定基因突变的新方法。方法:应用普通的聚合酶链反应和直接测序分析先证者,找到突变位点后合成位点特异性引物,利用多重聚合酶链反应对长QT家系成员进行筛查。结果:发现了1个KCNH2新错义突变:跨膜片段S2的F463L,同时确定了家系成员中的基因携带者。结论:本研究发现的突变点丰富了LQTS离子通道突变的基因库资料,也为长QT家系的基因筛查寻找了一种新的方法。
OBJECTIVE: To identify the gene mutation sites that cause long QT syndrome and to find new ways to identify mutations. Methods: The probands were analyzed by ordinary polymerase chain reaction (PCR) and direct sequencing. Site-specific primers were synthesized after finding mutation sites, and the members of long QT families were screened by multiplex polymerase chain reaction. RESULTS: A new missense mutation of KCNH2 was found: F463L of the transmembrane segment S2, together with gene carriers in family members. Conclusion: The mutations found in this study enriched the gene library data of LQTS ion channel mutation, and also found a new method for genetic screening of long QT pedigrees.