论文标题:血浆型血小板活化因子乙酰水解酶（PAF-AH）基因突变与江苏省汉族人脑血栓发病的相关性研究
Effect of Danshen Decoction Accelerating Gastric Ulcer Healing and Its Relative Mechanisms
论文作者 吴健
论文导师 袁成林,论文学位 硕士,论文专业 生物化学与分子生物学
论文单位 扬州大学,点击次数 667,论文页数 45页File Size2524k
2005-04-01论文网 http://www.lw23.com/lunwen_341167/ 脑血栓;血小板活化因子(PAF);血小板活化因子乙酰水解酶(PAF-AH)
brain thrombosis ; platelet activating factor(PAF) ; platelet-activating factor acetylhydrolase(PAF-AH) ; polymerase chain reaction (PCR) ; DHPLC; AS-PCR
目的:本研究通过检测血浆型PAF-AH基因4、7、9、11外显于是否存在基因变异或多态性,进而探讨其与中国江苏藉汉族人脑血栓易患性的关系;并观察血浆型PAF-AH活力与江苏省汉族人脑血栓的相关性。 第一部分:血小板活化因子乙酰水解酶基因突变与江苏汉族人脑血栓的关系 方法:应用聚合酶链式反应,变性高效液相色谱,在中国江苏汉族人群中分析血浆型PAF—AH基因4、7、9、11外显子变异的多态性。 结果:变性高效液相色谱检测出7、9号外显子多态性。7外显子Ile~(198)Thr (593位点T→C突变)在脑血栓组出现频率12.67%,在健康对照组出现频率11%。9号外显子Val~(279)Phe (994位点G→T突变),在脑血栓组GT基因型及等位基因的频率为18.67%、10%,在健康对照组为8%、4%。变性高效液相色谱未检测出4、11号外显子多态性。 结论:9号外显子994位点G→T突变可能是中国汉族人脑血栓的易患基因标志,7号外显子593位点T→C突变是多态性位点,与脑血栓无相关性。 关键词:脑血栓,血小板活化因子(PAF),血小板活化因子乙酰水解酶(PAF-AH),基因多态性,聚合酶链式反应(PCR),变性高效液相色谱(DHPLC),等位基因特异扩增法(AS—PCR)。 第二部分:血浆型PAF-AH活力在江苏汉族健康人及脑血栓患者研究方法:卡门(Caymen)分析试剂盒测量PAF-AH在中国江苏汉族人群中活性。 结果:脑血栓病人血浆GG和GT基因型PAF乙酰水解酶活性高于对照组,差异有显著性(P<0.05),不同危险因素间基因突变的差别无统计学意义。 结论:杂合子或纯合子中血浆乙酰水解酶活性显著降低增加了脑血管病的危险性。
Objective To study on the exon 4、 7、 9、 11 polymorphism of plasma PAF-AHgene,furthermore research the correlation between the mutation or polymorphism of platelet activating factor acetyltiydrolase gene and brain thrombosis disease in Jiangsu Province of Chinese ,and observe the correlations between plasma PAF-AH activity and brain thrombosis in Chinese Han Population of Jiangsu Province.The first fraction: Study on the exon 4、 7、 9、 11 polymorphism ofplasma PAF-AH geneMethods PCR、 DHPLC were used to examine the exon 4、 7、 9、 11 polymorphismof plasma PAF-AH gene in Chinese Han Population of Jiangsu Province.Results The DHPLC find the exon 7、9 polymorphism . The exon 7 polymorphism(Ile198Thr, position 593; T→C), which mution frequencies was 12.67% in brain thrombosis group and 11% in control group. The exon 9 polymorphism (Val279Phe, position 994; G→T mution),which GT mution frequencies and the frequency of the mutation allele was 18.67% 、 10% in brain thrombosis group and 8%、 4% in control group. The DHPLC do not find the exon 4、 11 polymorphism.Conclusion The G994 mution of exon 9 may be a genetic risk factor for brainthrombosis disease, the T593C mution of exon 7 may be not a genetic risk factor for brain thrombosis disease.The second fraction: Study on the PAF-AH activity in health and brain thrombosis people in Han Population of Jiangsu ProvinceMethods Caymen assay kit measure PAF-AH activity in Chinese Han Population ofJiangsu Province.Results Plasma PAF-AH activity with GG and GT genotype are significantly higherin patient with brain thrombosis than those in control subjects(P<0.05). The differences in mutation were not significant between different risk factors.Conclusion Plasma PAF-AH activities with homozygous and heterozygous ofmutation are obvious decreased which may increase the risk in brain thrombosis disease. Enzyme deficiency in the plasma caused by PAF acetylhydrolase gene mutation may bea genetic risk factor for patient with brain thrombosis in Chinese Han Population of Jiangsu Province.
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