葡萄糖转运蛋白9论文：SLC2A9基因第八外显子137A-G位点多态性与糖尿病合并高尿酸血症的关系.doc

葡萄糖转运蛋白9论文：SLC2A9基因第八外显子137A/G位点多态性与糖尿病合并高尿酸血症的关系

【中文摘要】探讨山东省青岛市汉族人SLC2A9基因第八外显子137A/G(rs3733591)位点单核苷酸多态性与糖尿病合并高尿酸血症的关系。方法：应用序列特异性引物-聚合酶链式反应技术(PCR)扩增SLC2A9基因第八外显子,取PCR产物经限制性内切酶BstUI酶切,对部分PCR产物进行测序,检测414例在青医附院就诊的患者SLC2A9基因第八外显子137A/G单核苷酸多态性位点的等位基因频率和基因型频率的分布情况。结果：SLC2A9基因第八外显子137A/G多态性位点A等位基因频率在对照组、高尿酸血症组、糖尿病组、糖尿病合并高尿酸血症组分别为68.1%、58.6%、63.6%、58.2%,G等位基因频率分别为31.9%、41.4%、36.4%、41.8%,A、G的等位基因频率在对照组与高尿酸血症组、对照组与糖尿病合并高尿酸血症组间的差别有统计学意义(P<0.05),在其余各组间的差别无统计学意义(P>0.05)。AA基因型频率在对照组、高尿酸血症组、糖尿病组、糖尿病合并高尿酸血症组分别为45.1%、36.2%、41.7%、30.8%,AG基因型频率分别为46.1%、44.8%、43.7%、54.8%,GG基因型频率分别为8.8%、19.0%、14.6%、14.4%,三种基因型频率在各组之间的差异无统计学意义(P>0.05)。结论：山东省青岛市汉族人SLC2A9基因第八外显子137A/G位点单核苷酸多态性与糖尿病合并高尿酸血症有相关性,携带等位基因G的个体发生糖尿病合并高尿酸血症的风险可能高于携带等位基因A的个体。
【英文摘要】:To investigate the single-nucleotide polymorphism(SNP) at position 137A/G of exon 8 of SLC2A9 gene for the association with diabetes mellitus and hyperuricemia in the Chinese Han population in Qingdao City of Shandong province.Methods:A segment of exon 8 of SLC2A9 gene was amplified by sequence specific primers and polymerase chain reaction (PCR) method, then all PCR products were digested by restriction enzyme BstUI and a part of PCR products were submitted to DNA sequence analysis, and we detected the differences of the allele frequency and genotype frequency of SLC2A9 gene at position 137A/G in 414 patients in affiliated hospital of medical college of Qingdao university in Shandong province.Results:A allele frequency of 137A/G polymorphism of exon 8 of SLC2A9 gene in control group is 68.1%, in hyperuricemia group is 58.6%, in diabetes mellitus group is 63.6%, and in diabetes mellitus and hyperuricemia group is 58.2%, while G allele frequency in control group is 31.9%, in hyperuricemia group is 41.4%, in diabetes mellitus group is 36.4%, and in diabetes mellitus and hyperuricemia group is 41.8%. The difference of allele frequency between control group and hyperuricemia group had statistical significance(P<0.05), the difference of allele frequency between control group and diabetes mellitus and hyperuricemia group had statistical significance (P<0.05), the difference of allele frequency in other groups had no statistical significance (P>0.05).The AA genotype frequency in control group is 45.1%, in hyperuricemia group is 36.2%, in diabetes mellitus group is 41.7%, and in diabetes mellitus and hyperuricemia group is 30.8%, the AG genotype frequency in control group is 46.1%, in hyperuricemia group is 44.8%, in diabetes mellitus group is 43.7%, and in diabetes mellitus and hyperuricemia group is 54.8%, and the GG genotype frequency in control group is 8.8%, in hyperuricemia group is 19.0%, in diabetes mellitus group is 14.6%, and in diabetes mellitus and hyperuricemia group is 14.4%. The genotype frequency in those groups had no statistical significance (P>0.05).Conclusion:In the Chinese Han population in Qingdao City of Shandong province,137A/G polymorphism of exon 8 of SLC2A9 gene is assicated with diabetes mellitus and hyperuricemia, the incidence of diabetes mellitus and hyperuricemia in those people with A allele is higher than those with G allele.
【关键词】葡萄糖转运蛋白9 基因多态性 糖尿病 高尿酸血症
【英文关键词】Glucose transporter member 9 Gene polymorphism Diabetes mellitus Hyperuricemia
【目录】SLC2A9基因第八外显子137A/G位点多态性与糖尿病合并高尿酸血症的关系

摘要

2-3

Abstract

3

引言

5-6

第1章 研究对象和方法

6-12

1.1 研究对象

6

1.1.1 研究对象分组

6

1.1.2 诊断标准及排除标准

6

1.2 主要仪器与试剂

6-7

1.2.1 主要仪器

6-7

1.2.2 主要试剂

7

1.3 实验方法

7-11

1.3.1 标本收集

7-8

1.3.2 基因组DNA的提取

8

1.3.3 测定DNA的OD值

8

1.3.4 稀释DNA

8

1.3.5 PCR反应

8-9

1.3.6 酶切

9

1.3.7 测序

9-11

1.4 统计学分析

11-12

第2章 结果

12-14

2.1 一般资料

12

2.2 基因型和等位基因在各组中的分布

12-14

第3章 讨论

14-17

结论

17-18

参考文献

18-20

综述

20-29

参考文献

26-29

攻读学位期间的研究成果

29-30

致谢

30-31