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Genetic Analysis of SCN5A Gene in Patients of Long QT Syndrome

机译：长QT综合征患者SCN5A基因的遗传分析

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Background: Finding out the cause of death is the main concern in forensic casework, particularly in sudden unexplained death cases. Long QT syndrome is a form of life debilitating cardiac arrhythmia. Among LQT genes, LQT3 is suggested to be more lethal and patients are at high probability of sudden death as compared to LQT1 and LQT2 patient. Methods: Samples of long QT patients were collected and the coding regions of all exons of the SCN5A, voltage- gated Na+ channel gene were screened by sequencing for the potential mutations as the causative agent of long QT syndrome. Results: After data analysis, 3 genetic variations have been found, amongst them are 2 heterozygous mutations that were reported previously in other ethnicity G87A-A29A found in exon 2, G1673A-H558R in exon 12 and one novel mutation that has not been reported so far, GA 1238-G412G resulting in a transition mutation and change in amino acid GGG- Glycine to GAG- glutamic acid at position 412 in exon 9. While in other exons, no significant mutation was found. Conclusion: As some of the exons showed mutation and the sample size was small, however, further functional analysis of the gene is needed with large number of samples for the confirmation of results.
机译：背景：找出死亡原因是法医案件中的主要问题，尤其是在无法解释的突然死亡案件中。长QT综合征是一种使生命衰弱的心律不齐的形式。在LQT基因中，与LQT1和LQT2患者相比，LQT3被认为具有更高的致死性，并且患者猝死的可能性更高。方法：收集长期QT患者的样本，并通过测序来筛选SCN5A所有外显子，电压门控Na +通道基因的编码区，寻找可能导致长期QT综合征的突变。结果：经过数据分析，发现了3个遗传变异，其中2个是先前在外显子2中发现的其他种族G87A-A29A中报道的2个杂合突变，而在1号外显子中是G1673A-H558R，并且尚未报道过一个新的突变。到目前为止，G> A 1238-G412G导致一个过渡突变，并且外显子9中第412位的氨基酸GGG-甘氨酸变为GAG-谷氨酸。而在其他外显子中，未发现明显的突变。结论：由于一些外显子显示出突变且样本量较小，因此，需要对该基因进行大量功能分析，以确认结果。

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