【作者】 云泓若；

【导师】 周天鸿；

【作者基本信息】 暨南大学 ， 医学遗传学， 2001， 硕士

【摘要】 背景：内皮素-1是1988年日本学者Yanagisawa等从培养的猪大主动脉内皮细胞的悬浮液里分离和纯化出的一种活性多肽。它是迄今为止发现的最强有力的内源性缩血管因子。近几年来，人们发现内皮素-1在妊高征和缺血性脑卒中的发病机制中具有重要的病理意义。目的：检测中国汉族人群中是否存在内皮素-1基因外显子1 BsiYⅠ和内含子4TaqⅠ两个多态性位点及它们在妊高征组、缺血性脑卒中组和相关对照组中的基因频率和基因型频率的分布。探讨这些位点的多态性与妊高征和缺血性脑卒中的相关性。方法：提取外周血白细胞的基因组DNA，以此为模板，应用PCR-RFLP方法对内皮素-1基因外显子1 BsiYⅠ和内含子4TaqⅠ两位点进行多态性检测，并分析其基因及基因型频率。结果：（1）内皮素-1基因外显子1 BsiYⅠ位点的检测 本实验在70例中国汉族随机人群的标本中没有检测到BsiYⅠ位点的多态性。（2）内皮素-1基因内含子4 TaqⅠ位点的检测a．与妊高征的相关性研究 研究对象分为三级，随机妇女组，共有83例，166个等位基因，C等位基因频率为75.3％，D等位基因频率为24.7％；正常孕妇组，共有85例，170个等位基因，C等位基因频率为71.8％，D等位基因频率为28.2％；妊高征组，共有55例，110个等位基因，C等位基因频率为56.4％，D等位基因频率为43.6％。b．与缺血性脑卒中的相关性研究 研究对象分为三组，随机人群组，共有89例，178个等位基因，C等位基因频率 暨南大学现学颀土学位论文 M为。。。（）。，I）等位基因频率为。2，0。。iE常对照？［卜共有 70例，14’个踉因，‘等位某冈硼租为74．肥，！〕等位基因频率为浙．狐；缺血性脑卒。卜组，共有盯例，IN个等位揣冈，C等位基因频率为72．4％，l）等位基因频率为27．6％。结论：川小m汉旅人群的内皮素－1基因不存在比汀I多态性位点。Q）。I：1m汉脓人卅的内皮素八 Ik因存在Taq多态性位点O）对随机妇女组、正常孕妇组利好高征级的基因型频率与基因频率进行统汁学处现，发观有显酱性斧异。实验结果显示，中国人群内皮素刁基因内含子－4内的‘卜q 位点的多态性与奸高征有显著的相关关系。（4）对随机人淋组、正常对照组和缺血性脑卒·上组的基因型频率与拖因频率进行统汁学处理，发现无差异。实验结果显示，I－r。囤人群内皮素－1基因内含了－4 dJ的’l’aq位点的多态性与缺加．性脑卒中无相关关系。 ＿卜述研究纤脓国内尚未见报迢。更多还原

【Abstract】 Background: Endotlielin-l gene is the most potent vasoconstrictor peptide originally characterized from a culture supernatant of porcine aortic endothelial cells. It has been founded that endothelin-l gene plays a role in the pathogenesis of pregnancy-induced hypertension and ischemic stroke. Objective: We have studied that if there are I3siY I polymorphism and Taq I polymorphism of endothclin-l gene in Chinese I-lan population and the difference and correlation between the normal controls and the women with pregnancy-induced hypertension/ischemic stroke and whether the frequencies of the RFLPs are contributed to these two diseases. Methodology: We extracted the geiionie DNA from leukocyte as PCR templet,use PCP-RFLP to document the polymorphism of l3siY I in exon I of endothelin-l gene gene and polymorphism of Taq I in intron 4 of endothelin-l gene. Results: (1) Detecting the site of BsiY I in exon I of endothelin-1 gene g~. There was no subject with BsiY I polymorphism in 70 random controls of Chinese Han population. (2) Detecting the site of Taq I in intron 4 of endofhelin-l gene gs~€ 3 a. The study of the relation between the polymorphism arid the women with pregnancy-induced hypertension The research group has been divided in three groups. The frequency of C allele is 75.3% and D allele is 24.7% in 166 alleles in random women controls. The frequency of C allele is 71.8% and D allele is 28.2% in 170 alleles in normal pregnancy women. [lie frequency of C allele is 56.4% and D allele is 43.6% in 110 alleles in the women with pregnancy-induced hypertension. b. The study of the relation between the polymorphism and the people with lschernic stroke The research group has been divided in three groups. The frequency of C allele is 68% and D allele is 32% in 178 alleles in random controls. The frequency of C allele is 74.3% and D allele is 25.7% in 140 alleles in healthy controls. The frequency of C allele is 72.4% arid D allele is 27.6% in 174 alleles in the people with lschemic stroke. Conclusion: (1) There is no polymorphism of I3siY I polymorphism in exon I of endothelin-l gene in Chinese Han population. (2) There is Taq I polymorphism in intron 4 of endothelin-1 gene in Chinese 1-lan population. (3) Statistically significant difference has been found between the normal controls and the women with pregnancy-induced hypertension. it shows that there is associated between the Taq I polymorphism of endolhelin-1 gene and P11-f. (4) No Statistically significant difference has been found between the normal controls and the people with ischemic stroke. It shows that there is rio associated between the B~sPi~-4 polymorphism of endothelin-l gene and ischemic stroke. This study has been found in China up to date.更多还原