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目的:探讨ET-1基因的Lys198Asn和TaqI酶切两个多态性位点与高血压缺血性卒中的关系.方法:运用序列特异引物聚合酶链反应(sequence specific primer polymerase chain reaction,SSP-PCR)和限制性内切酶片段长度多态性(restriction fragment length polymorphism,RFLP)的方法了解46例原发性高血压(essential hypertension,EH)缺血性卒中的病人和50例EH未发生卒中的病人的Lys198Asn和TaqI酶切两个位点基因型分布情况.结果:Lys198Asn和TaqI酶切位点多态性在对照组基因分布频率符合Hardy-Weinberg平衡.Lys198Asn基因型频率和等位基因频率在卒中组和对照组之间有统计学差异(p<0.05),基因型频率的相对风险分析发现,GT+TT基因型患卒中的风险是GG基因型的4.855倍.(OR=4.855,95%CI:2.197～16.608)TaqI酶切位点基因型分布频率在卒中组和对照组之间无统计学差异(p>0.05),等位基因频率有临界统计学差异(marginally significant)(p=0.04).携带GG(Lys198Asn)+GG(TaqI酶切多态性)基因型的患者发生高血压缺血性卒中的风险增加(p=0.035,OR=0.991,95%CI=0.01～0.84).结论:人类ET-1基因的Lys198Asn位点T等位基因可能是人群发生高血压缺血性卒中的易感因素.TaqI酶切位点可能与其有协同作用.
Objective: To investigate the relationship between polymorphisms of Lys198Asn and TaqI digestion of ET-1 gene and hypertensive ischemic stroke.Methods: The sequence-specific primer polymerase chain reaction (SSP- PCR and restriction fragment length polymorphism (RFLP) were used to understand the data of 46 patients with essential hypertension (EH) ischemic stroke and 50 patients without EH Of patients with Lys198Asn and TaqI digestion at two loci genotype distribution.Results: Lys198Asn and TaqI restriction site polymorphism in the control group gene distribution frequency in line with the Hardy-Weinberg equilibrium Lys198Asn genotype frequency and allele frequency There was a significant difference between the stroke group and the control group (p <0.05). The relative risk analysis of the genotype frequency found that the risk of stroke with GT + TT genotype was 4.855 times that of the GG genotype (OR = 4.855,95 % CI: 2.197-16.608). There was no significant difference in genotype distribution frequency between TaqI restriction site and control group (p> 0.05), allele frequency was marginally significant (p = 0.04). Carry GG (L (p = 0.035, OR = 0.991, 95% CI = 0.01-0.84) in patients with genotypes ys198Asn + GG (Taql polymorphism) .Conclusion: Gene Lys198Asn site T allele may be a susceptible factor in hypertensive ischemic stroke in humans.TaqI restriction sites may be synergistic effect.