發(fā)布時(shí)間：2018-05-11 05:15

  本文選題：顱內(nèi)動(dòng)脈粥樣硬化性狹窄 + 同型半胱氨酸　； 參考：《蚌埠醫(yī)學(xué)院》2017年碩士論文

【摘要】：目的:探討同型半胱氨酸(Hcy)及其代謝酶—胱硫醚酶β-合成酶(CBS)G919A(rs121964962)基因多態(tài)性與顱內(nèi)動(dòng)脈粥樣硬化性狹窄的關(guān)系。方法:采用病例對(duì)照研究方法,共收集缺血性缺血性腦血管病患者148例,根據(jù)有無顱內(nèi)血管狹窄分為顱內(nèi)血管狹窄組86例,非狹窄組62例,分別采用循環(huán)酶法和聚合酶鏈反應(yīng)-限制片段長(zhǎng)度多態(tài)性(PCR-RFLP)技術(shù)、擴(kuò)增阻滯突變體系法(ARMS)測(cè)定和分析各組血清同型半胱氨酸水平及CBS G919A基因多態(tài)性。結(jié)果:(1)狹窄組男性Hcy高于非狹窄組男性Hcy水平(17.81±7.3μmol/L;13.66±7.2,t=2.52,P0.01);狹窄組女性Hcy高于非狹窄組女性Hcy水平(13.35±4.1μmol/L,7.88±2.9μmol/L,t=6.44,P0.05);而同組間比較發(fā)現(xiàn):無論狹窄組還是非狹窄組,男性Hcy濃度顯著高于女性Hcy水平,且差異有統(tǒng)計(jì)學(xué)意義(t=3.43,P0.05;非狹窄組t=3.96,P0.01)(2)狹窄組與非狹窄組的基因型純合突變型AA、雜合突變型GA與基因型野生型GG比較差異無統(tǒng)計(jì)學(xué)意義(X2=0.196,P0.05)。狹窄組與非狹窄組的基因型分布及等位基因頻率比較,差異無統(tǒng)計(jì)學(xué)意義(X2=0.219,P0.05);(3)不同基因型的血清Hcy濃度經(jīng)方差分析表明CBS G919A各基因型間血清Hcy濃度差異有統(tǒng)計(jì)學(xué)意義,其中各組間比較發(fā)現(xiàn)野生型GG與雜合突變型GA比較:t=5.89,P0.05;野生型GG與純合突變型AA比較:t=6.67,P0.05;雜合突變型GA與純合突變型AA比較:t=2.15,P0.01。結(jié)論:高同型半胱氨酸血癥是顱內(nèi)動(dòng)脈粥樣硬化性狹窄的危險(xiǎn)因素;胱硫醚β-合成酶G919A位點(diǎn)基因存在多態(tài)性;其突變純合子(AA)及突變雜合子(GA)是影響血清Hcy水平的重要遺傳因素之一;胱硫醚β-合成酶G919A基因多態(tài)性與某地區(qū)顱內(nèi)動(dòng)脈粥樣硬化性狹窄無相關(guān)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 鹵7.3 渭 mol / L / L (13.66 鹵7.2 渭 mol / L) 2.52 渭 mol / L Hcy was higher than that in non-stenosis group (13.35 鹵4.1 渭 mol / L ~ 7.88 鹵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.
【學(xué)位授予單位】：蚌埠醫(yī)學(xué)院
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：R743.3

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