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目的 通过部分基因组扫描筛查与 2型糖尿病连锁的位点 ,为进一步定位和克隆 2型糖尿病的易感基因奠定基础。方法 采用以微卫星DNA标记为基础的荧光标记 半自动基因组扫描技术 ,应用Perkin Elmer的试剂盒 (ABIPrismLinkageMappingSetVersion 2 ) ,共 6 3对引物 ,研究 2型糖尿病家系 5 8个 ,共 2 6 4份样品 ,其中糖尿病患者 15 2人 ,非糖尿病患者 112人 ,有同胞关系的患者74人 ,组成 45对患病同胞对 ,对 1号、12号、18号、2 0号染色体进行部分基因组扫描。连锁分析采用GENEHUNTERversion 2连锁分析软件包。结果 非参数连锁分析结果提示 ,1号染色体 1p31区域的D1S2 86 8位点同 2型糖尿病连锁 ,其NPL值为 1.192 ,P值为 0 .0 45 ,2 0号染色体短臂末端 2 0 p13区域的位点D2 0S117和D2 0S889以及 2 0号染色体长臂 2 0q13 .3区域的D2 0S196位点同 2型糖尿病连锁 ,其NPL值分别为 1.36 2、1.36 0、1.199,P值分别为 0 .0 30、0 .0 30和 0 .0 49。结论 1号染色体短臂 1p31区域及 2 0号染色体短臂 2 0 p13区域及长臂 2 0 q13.3区域可能存在有 2型糖尿病的易感基因。
Objective To screen the loci linked to type 2 diabetes by partial genome scan and lay the foundation for further localization and cloning of susceptibility genes of type 2 diabetes. Methods A total of 6 3 pairs of primers were used in this study. Perkin Elmer kit (ABIPrismLinkageMappingSetVersion 2) was used in this study. A total of 566 pedigrees of type 2 diabetic patients were studied. There were 15 2 diabetic patients, 112 non-diabetic patients and 74 sibling patients, constituting 45 pairs of affected siblings. Partial genome scanning was performed on chromosomes 1, 12, 18 and 20. Linkage analysis using GENEHUNTERversion 2 chain analysis software package. Results The non-parametric linkage analysis suggested that the D1S2 868 locus on chromosome 1p31 was linked to type 2 diabetes with an NPL value of 1.192 and a P value of 0.045, 20 at the short arm of chromosome 20 D2 0S117 and D2 0S889, and D2 0S196 in region 20 0q13.3 of chromosome 20 were linked to type 2 diabetes with NPL values of 1.36 2, 1.360 and 1.199, respectively, with P values of 0, respectively. 0 30,0 .0 30 and 0 .0 49. Conclusion The susceptibility genes of type 2 diabetes may exist in 1p31 region of chromosome 1 short arm and 20 p13 region of 20 chromosome and 20 013 region of long arm.