同型半胱氨酸及其代谢酶CBS基因多态性与颅内动脉粥样硬化性狭窄相关性研究

发布时间：2018-05-11 05:15

本文选题：颅内动脉粥样硬化性狭窄 + 同型半胱氨酸　；参考：《蚌埠医学院》2017年硕士论文

【摘要】：目的:探讨同型半胱氨酸(Hcy)及其代谢酶—胱硫醚酶β-合成酶(CBS)G919A(rs121964962)基因多态性与颅内动脉粥样硬化性狭窄的关系。方法:采用病例对照研究方法,共收集缺血性缺血性脑血管病患者148例,根据有无颅内血管狭窄分为颅内血管狭窄组86例,非狭窄组62例,分别采用循环酶法和聚合酶链反应-限制片段长度多态性(PCR-RFLP)技术、扩增阻滞突变体系法(ARMS)测定和分析各组血清同型半胱氨酸水平及CBS G919A基因多态性。结果:(1)狭窄组男性Hcy高于非狭窄组男性Hcy水平(17.81±7.3μmol/L;13.66±7.2,t=2.52,P0.01);狭窄组女性Hcy高于非狭窄组女性Hcy水平(13.35±4.1μmol/L,7.88±2.9μmol/L,t=6.44,P0.05);而同组间比较发现:无论狭窄组还是非狭窄组,男性Hcy浓度显著高于女性Hcy水平,且差异有统计学意义(t=3.43,P0.05;非狭窄组t=3.96,P0.01)(2)狭窄组与非狭窄组的基因型纯合突变型AA、杂合突变型GA与基因型野生型GG比较差异无统计学意义(X2=0.196,P0.05)。狭窄组与非狭窄组的基因型分布及等位基因频率比较,差异无统计学意义(X2=0.219,P0.05);(3)不同基因型的血清Hcy浓度经方差分析表明CBS G919A各基因型间血清Hcy浓度差异有统计学意义,其中各组间比较发现野生型GG与杂合突变型GA比较:t=5.89,P0.05;野生型GG与纯合突变型AA比较:t=6.67,P0.05;杂合突变型GA与纯合突变型AA比较:t=2.15,P0.01。结论:高同型半胱氨酸血症是颅内动脉粥样硬化性狭窄的危险因素;胱硫醚β-合成酶G919A位点基因存在多态性;其突变纯合子(AA)及突变杂合子(GA)是影响血清Hcy水平的重要遗传因素之一;胱硫醚β-合成酶G919A基因多态性与某地区颅内动脉粥样硬化性狭窄无相关性。
[Abstract]:Objective: to investigate the relationship between the polymorphism of homocysteine Hcyase and its metabolase-cystease 尾 -synthase CBSN G919Ar rs121964962, and intracranial atherosclerotic stenosis. Methods: a case-control study was carried out in 148 patients with ischemic cerebrovascular disease. According to the presence or absence of intracranial vascular stenosis, 86 patients were divided into intracranial vascular stenosis group (n = 86) and non-stenosis group (n = 62). The serum homocysteine level and CBS G919A gene polymorphism were determined and analyzed by circulating enzyme method and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique, respectively. Results (1) the Hcy level of male in stenosis group was 17.81 卤7.3 渭 mol / L / L (13.66 卤7.2 渭 mol / L) 2.52 渭 mol / L Hcy was higher than that in non-stenosis group (13.35 卤4.1 渭 mol / L ~ 7.88 卤2.9 渭 mol / L ~ (6.44) 渭 mol / L / L ~ (6.44) 渭 mol 路L ~ (-1) P ~ (0.05). The results showed that the level of Hcy in male was significantly higher than that in female Hcy in both narrow group and non-stenosis group. There were significant differences in genotype homozygous type AAA between non-stenosis group and non-stenosis group, and there was no significant difference between heterozygous mutant GA and wild type GG. There was no significant difference between non-stenosis group and non-stenosis group in genotype GG (P 0.05), and there was no significant difference in genotype GG between non-stenosis group and non-stenosis group (P < 0.05), and there was no significant difference in genotype homozygous mutation (AAA) between non-stenosis group and non-stenosis group (P < 0.05). There was no significant difference in the distribution of genotype and allele frequency between the two groups. There was no significant difference in the serum Hcy concentration of different genotypes. The results of variance analysis showed that the serum Hcy concentration of CBS G919A was significantly different among different genotypes. The wild type GG was compared with the heterozygous mutant (GA), the wild type (GG) was compared with the homozygous mutant (AA), and the heterozygous mutant (GA) was compared with the homozygous mutant (AA). Conclusion: hyperhomocysteinemia is a risk factor for intracranial atherosclerotic stenosis. The mutation homozygote (AA) and the mutant heterozygote (GA) are one of the important genetic factors affecting the serum Hcy level, while the G919A gene polymorphism of cystathithione 尾 -synthase is not associated with intracranial atherosclerotic stenosis in a certain area.
【学位授予单位】：蚌埠医学院
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R743.3

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