三种候选基因与新疆地区2型糖尿病的相关性研究

【作者】 李秀梅；

【导师】 李萍；

【作者基本信息】 新疆医科大学 ， 生物化学， 2001， 硕士

【摘要】 目的 探讨胰高血糖素受体（GCG-R）基因第2外显子Gly40Ser突变，磺脲类受体（SUR1）基因第24内含子-3t→c多态性及胰岛素受体（INS-R）基因第17外显子突变与新疆地区2型糖尿病的相关性。方法 利用PCR-RFLP，PCR-SSCP技术对新疆地区42例2型糖尿病患者及30例正常对照与上述三种基因突变的相关性进行了研究。结果72例受试者中未发现GCG-R基因第2外显子Gly40Ser突变；42例2型糖尿病患者中检出5例INS-R第17外显子的异常带型，正常对照中未检出；SUR1基因第24内含子“c”等位基因频率在2型糖尿病患者和正常对照中分别为77.5％和63.5％，“cc”基因型频率在两组中分别为61.90和40％，经X~2检验，均无显著差异。结论①INS-R基因第17外显子突变可能与新疆地区2型糖尿病发病有关；②GCG-R基因第2外显子Gly40Ser突变与新疆地区2型糖尿病不具相关性，但不能排除此突变可能与某些民族2型糖尿病有关，需扩大病例进一步研究；③SUR1基因第24内含子—31→c多态性在新疆地区居民中存在较普遍，但不是2型糖尿病发生的主要遗传基础。更多还原

【Abstract】 Type 2 diabetes mellitus is a clinically and genetically heterogeneous disorder. However, the majority of susceptive genes to the disease are still to be described.The aim of the study is to research the relationship between three candidate genes:glucagon receptor gene(GCG-R gene),insulin receptor gene (INS-R gene) and sulfonylurea receptor gene (SUR1 gene) with type 2 diabetes mellitus in Xinjiang. DNA were extracted from blood samples from 72 subjects, including 42 type 2 diabetes mellitus patients and 30 controls. PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) and PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) were used to detect the mutation .No mutation in exon 2 of GCG-R gene was detected in both groups. Five abnormal electrophoresis strands of exon 17 of INS-R gene were found in 42 type 2 diabetes mellitus patients while none was found in controls. The frequency of 揷?allele in intron 24 of SUR1 was 77.5% in patients and 63.5% in controls, and that of the 揷c~~ genotype was 6 1.9% and 40%, respectively. But none of the data showed signifcant difference The results suggested that the mutation in exon 2 of GCG-R gene and in intron 24 of SUR1 gene may not associate with type 2 diabetes mellitus in Xinjiang area, but the mutation of exon 17 of INS-R gene may relate to the disorder.更多还原