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目的:分析长沙地区汉族人群脑出血与组织型激肽释放酶(tissue Kallikrein,KLK1)基因多态性的关系。方法:收集长沙地区汉族人群中273例散发性脑出血患者和140例正常对照者的外周血标本。采用多重单碱基延伸单核苷酸多态性(SNP)分型技术(Snapshot)和DNA测序法检测KLKI基因rs3212855及rs5515多态性位点在脑出血患者及正常人群中的分布情况。结果:在本研究样本中未能证实rs5515是多态性位点。脑出血组及对照组KLK1基因rs3212855多态性位点基因型分布和等位基因频率差异无统计学意义(P(0.05)。脑出血组rs3212855多态性位点各基因型亚组间血压水平差异无统计学意义(P(0.05);对照组rs3212855位点各基因型亚组间血压水平差异无统计学意义(P(0.05)。结论:KLK1基因rs3212855和rs5515位点与脑出血无关。
Objective: To analyze the relationship between cerebral hemorrhage and tissue Kallikrein (KLK1) gene polymorphism in Han nationality in Changsha area. Methods: Peripheral blood samples from 273 cases of sporadic cerebral hemorrhage and 140 normal controls were collected from Han population in Changsha area. The distribution of rs3212855 and rs5515 polymorphisms of KLKI gene in ICH patients and normal subjects was detected by using SNP genotyping and DNA sequencing. RESULTS: The rs5515 polymorphism site was not confirmed in this study sample. There were no significant differences in genotype distribution and allele frequencies between rs3212855 polymorphism loci in KLK1 gene and cerebral hemorrhage group (P <0.05) There was no significant difference between the two groups (P (0.05)). There was no significant difference in the blood pressure level between the subgroups of rs3212855 in the control group (P <0.05) .Conclusion: The rs3212855 and rs5515 sites of KLK1 gene are not associated with cerebral hemorrhage.