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Mutational analysis of SCN5A gene in long QT syndrome

机译：长QT综合征SCN5A基因突变分析。

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The SCN5A gene encodes for the INa channel implicated in long QT syndrome type-3 (LQTS-type-3). Clinical symptoms of this type are lethal as most patients had a sudden death during sleep. Screening of SCN5A in South Indian cohort by PCR-SSCP analyses revealed five polymorphisms — A29A (exon-2), H558R (exon-12), E1061E and S1074R (exon-17) and IVS25 + 65G > A (exon-25) respectively. In-silico and statistical analyses were performed on all the polymorphisms.Exon-2 of SCN5A gene revealed A282G polymorphism (rs6599230), resulting in alanine for alanine (A29A) silent substitution in the N-terminus of SCN5A protein. Exon-12 showed A1868G polymorphism (H558R — rs1805124) and its ‘AA’ genotype and ‘A’ allele frequency were found to be higher in LQTS patients pointing towards its role in LQTS etiology.Two polymorphisms A3378G (E1061E) and the novel C3417A (S1074R) were identified as compound heterozygotes/genetic compounds in exon-17 of SCN5A located in the DIIS6–DIIIS1 domain of the SCN5A transmembrane protein. IVS25 + 65G > A was identified in intron-25 of SCN5A. The ‘G’ allele was identified as the risk allele.Variations were identified in in-silico analyses which revealed that these genetic compounds may lead to downstream signaling variations causing aberrations in sodium channel functions leading to prolonged QTc. The compound heterozygotes of SCN5A gene polymorphisms revealed a significant association which may be deleterious/lethal leading to an aberrant sodium ion channel causing prolonged QTc.
机译：SCN5A基因编码与长QT综合征3型（LQTS 3型）有关的INa通道。这种类型的临床症状具有致命性，因为大多数患者在睡眠中突然死亡。通过PCR-SSCP分析在南印度队列中筛选SCN5A，发现五种多态性-A29A（第2外显子），H558R（第12外显子），E1061E和S1074R（第17外显子）和IVS25 + 65G> A（第25外显子）。 。对所有多态性进行了计算机内和统计分析.SCN5A基因的第2外显子显示A282G多态性（rs6599230），导致SCN5A蛋白N端的丙氨酸被丙氨酸（A29A）沉默取代。外显子12显示A1868G多态性（H558R — rs1805124），并且在LQTS患者中发现其'AA'基因型和'A'等位基因频率更高，表明其在LQTS病因中的作用。两个多态性A3378G（E1061E）和新型C3417A（ S1074R）被鉴定为SCN5A跨膜蛋白DIIS6-DIIIS1域中SCN5A外显子17中的复合杂合子/遗传化合物。在SCN5A的内含子25中鉴定出IVS25 + 65G> A。 “ G”等位基因被确定为风险等位基因。计算机分析表明，这些基因化合物可能导致下游信号传导变异，从而导致钠通道功能异常，从而导致QTc延长。 SCN5A基因多态性的化合物杂合子显示出显着的关联，这可能是有害/致命的，导致异常的钠离子通道，从而导致QTc延长。

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