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目的：研究中国汉族人群心脏钠离子通道α亚单位(voltage-gated sodium channel type V,SCN5A)基因的遗传多态性及其与特发性室性心律失常(idiopathic ventricular arrhythmia,IVA)的关系。方法：应用PCR直接测序技术测定21例IVA患者和103名中国汉族健康对照人群SCN5A基因编码区外显子、外显子-内含子交界区以及3′侧翼区序列,确定并比较其单核苷酸多态性(single nucleotide polymorphisms,SNPs)、基因型和等位基因频率分布。结果：在中同汉族健康人群及IVA患者中共检测到10个遗传变异,5个为新发现的遗传变异,分别为c．1676C＞T(p．Thr559Ile)、c．6210C＞T、c．6804C＞T、c．7013T＞A和c．7014C＞T,其中前2个变异在2个不同的健康个体中发现,其等位基因频率仅0．005。两组中各SNP等位基因在人群中的分布均符合Hardy-Weinberg平衡。其中c．87G＞A(p．Ala29Ala)和c．1673A＞G(p．His558Arg)2个SNPs等位基因频率在健康对照组男女之间存在差异(P=-0．023,P=0．027)；另外,女性IVA患者87A等位基因频率明显高于健康女性(0．500：0．198,P=0．005)。男性IVA患者1673G等位基因频率(0/20)明显低于健康男性(0．175)(P=0．043)。结论：本研究发现c．87G＞A和c．1673A＞G等位基因在中国汉族健康人群不同性别中的分布不同：提示等位基因87A可能是女性IVA患者的一个遗传易感因素,等位基因1673G在男性中可能具有预防室性心律失常作用。
Objective: To investigate the genetic polymorphisms of cardiac sodium channel type V (SCN5A) gene and its relationship with idiopathic ventricular arrhythmia (IVA) in Chinese Han population. Methods: The sequences of exon, exon-intron junction and 3 ’flanking region of coding region of SCN5A in 21 cases of IVA patients and 103 Chinese Han healthy controls were determined by PCR direct sequencing and their mononuclear Single nucleotide polymorphisms (SNPs), genotype and allele frequency distribution. Results: Ten genetic variations were detected in healthy Han Chinese and IVA patients, and five newly discovered genetic variations were c. 1676C> T (p.Thr559Ile), c. 6210C> T, c. 6804C> T, c. 7013T> A and c. 7014C> T, of which the first two mutations were found in two different healthy individuals with a allele frequency of only 0.005. The distribution of each SNP allele in the two groups was in line with the Hardy-Weinberg equilibrium. Which c. 87G> A (p. Ala29Ala) and c. 1673A> G (p.His558Arg) two SNPs allele frequency in the healthy control group there is a difference between men and women (P = -0.023, P = 0.027); In addition, the female IVA patients 87A allele frequency was significantly Higher than healthy women (0.500: 0.198, P = 0.005). The 1673G allele frequency (0/20) in male IVA patients was significantly lower than that in healthy men (0.175) (P = 0.043). Conclusion: This study found that c. 87G> A and c. The distribution of 1673A> G allele in different genders of healthy Chinese Han population is different: suggesting allele 87A may be a predisposing factor in women with IVA and allele 1673G may prevent ventricular arrhythmias in men .