CAJ | 학술논문

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.
목적 탐토신강합살극족WNK 4(with no K=lysine kinase)기인내함자10(intron10)다태성여원발성고혈압간적관계,료해해기인다태성재합살극족인군중적분포정황.방법 채용직접측서법측정WNK 4기인intron10서렬,학정단핵감산다태성위점급류형,응용다취매련반응、한제성편단장도다태성기술(PCR-RFLP)대해위점진행기인분형,기중원발성고혈압환자191례(고혈압조)、건강대조조173례.결과 재WNK 4기인intron10발현일다태성위점(17호염색체상감기1156666,G→A);PCR-RFLP분형,GG、GA、AA각기인형재합살극족고혈압조화건강대조조적빈솔분별위88.0%、11.0%、1.0%화91.9%、8.1%、0%,차이무통계학의의(균위P＞0.05);A등위기인빈솔분별위6.5%화4.0%,차이무통계학의의(P＞0.05).결론 WNK 4기인intronl0다태성가능불시신강합살극족원발성고혈압적유전역감지표.
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.