【作者】 于世军；

【导师】 朱玉琢；

【作者基本信息】 吉林大学 ， 遗传学， 2008， 硕士

【摘要】 随着人民生活水平,劳动方式及饮食结构的改变,平均寿命的延长,糖尿病的发病率逐年增高。由于糖尿病对人体的危害仅次于癌症,故被称为现代疾病中的第二杀手。糖尿病患者一旦出现高血压病,并发症有加重的表现。因此,寻找和建立有效的糖尿病合并高血压发病风险预测和发病前诊断技术,在临床上具有重要实用价值。本研究采用聚合酶链反应(PCR)和2%琼脂糖凝胶电泳法,检测吉林地区汉族人的一氧化氮合酶(eNOS)外显子7单核苷酸多态性(G894T)和内含子4可变数目串联重复序列(VNTR)插入/缺失多态性(4a/b)。进一步探讨一氧化氮合酶(eNOS)基因分布与糖尿病合并高血压的关系。结果显示:(1)所选样本基因型频率经Hardy-Weinburg遗传平衡定律检验达到平衡,具有代表性。(2)eNOS基因第7外显子894G→T多态性与糖尿病合并高血压具有相关性。T等位基因是2型糖尿病合并高血压的危险因素。虽然DM组与NC组基因频率和等位基因频率有明显不同,但没有差异性。(3)eNOS基因第4内含子多态性与糖尿病具有相关性。a等位基因与2型糖尿病的发生有关。更多还原

【Abstract】 Objective:To investigate the association between the single nucleitide polymorphism in exon 7(G894T) and the insert/deletion polymorphism of variable number of tandem repeat in intron 4(4a/b) of the endothelial nitric oxide synthase (eNOS) and type 2 diabetic patiens with hypertension in the Han population in jilin region.Methods: This research is divided into research object totally 3 sets. The first group(A group) is the diabetic patiens without hypertension including 45 persons(17 male, 28 female, average age was 48士8.54); The second group(B group) is the diabetic patiens with hypertension including 35 persons(13 male, 22 female, average age was 51士7.46); The second group(NC group) is matched control including 36 persons(17male, 18 female, average age was 47士8.44);Carry on 3 sets to check contrast control study. The next step is abstracting template DNA, adopt the American Promega company produce of the DNA extract kit quickly abstracting person`s white cell DNA of peripheral blood. The G894T polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.The 4a/b polymorphism was determined by polymerase chain reaction-variable number of tandem repeat (PCR-VNTR) analysis.the last step is 2% agarose gel electrophoresis was performed,the results were observed under ultraviolet light. Result: (1)Hardy-Weinburg inherit quilibrium laws examination result is that each genotype frequency attains heredity balance and have a community representative . (2)The frequency of T allele and TG genetype at exon 7 of eNOS were significantly higher in the DM with hypertension group than that in matched control group;but there was not have no obvious difference between DM without hypertension and DM with hypertension.the result of DM without hypertension and matched control is the same. (3)The frequency of a allele at introns 4 of eNOS was significantly higher in DM with hypertension group and DM without hypertension than in matched control group. there was not have no obvious difference between DM without hypertension and DM with hypertension.Conclusion: ( 1 ) Hardy-Weinburg inherit quilibrium laws examination result is that each genotype frequency attains heredity balance and have a community representative .(2)the 894G→T polymorphism at exon 7 of eNOS gene may be a predisposal factor for diabetic with hypertension in jilin.T allele is related to diabetic with hypertension in type-2 diabetes mellitus(3)a allele of the 4a/b polymorphism at introns 4 of eNOS gene is related to diabetic.更多还原