WNK4基因多态性与新疆哈萨克族原发性高血压的关系

摘要

目的 探讨新疆哈萨克族WNK 4(with no K=lysine kinase)基因内含子10(intron10)多态性与原发性高血压间的关系,了解该基因多态性在哈萨克族人群中的分布情况.方法 采用直接测序法测定WNK 4基因intron10序列,确定单核苷酸多态性位点及类型,应用多聚酶链反应、限制性片段长度多态性技术(PCR-RFLP)对该位点进行基因分型,其中原发性高血压患者191例(高血压组)、健康对照组173例.结果 在WNK 4基因intron10发现一多态性位点(17号染色体上碱基1156666,G→A);PCR-RFLP分型,GG、GA、AA各基因型在哈萨克族高血压组和健康对照组的频率分别为88.0%、11.0%、1.0%和91.9%、8.1%、0%,差异无统计学意义(均为P＞0.05);A等位基因频率分别为6.5%和4.0%,差异无统计学意义(P＞0.05).结论 WNK 4基因intronl0多态性可能不是新疆哈萨克族原发性高血压的遗传易感指标.%Objective To identify the genetic variants of WNK4(with no K=lysine kinase)gene in Kazak population in Xinjiang province,to determine whether the WNK4 gene intron 10 polymorphism iS associated with essential hypertension(EH)and to investigate the distribution of genotype and allele frequencies of WNK4 gene. Methods One hundred and ninety-one patients with EH and 173 normal blood pressure controls were included in the study to assess the contribution of polymorphism of WNK4.Direct DNA sequencing was performed to identify the single nucleotide polymorphism(SNP)in 16 SUbjects with EH and 16 subjects of normotension(NT).Then the polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)method was used for the detection of WNK4 genotype. Results One SNP located in the 10 intron of WNK4 (1156666 base of chromosome 17)was found in the Kazak population.The genotypes of the variants were found to be in Hardy-Weinberg equilibrium.GG,AG,AA genotypes were 88.0%,11.0 oA,1.0%in the EH group and 91.9%,8.1%,0%in the NT group,respectively.The frequencies of genotype and allele in EH group were not significantly different from NT group in Kazak population.Conclusions It suggests that the intron 10 polymorphism of WNK4 gene might be not associated with hypertension in Kazak population.