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目的 探讨中国南方人群 2型糖尿病 (DM)的发生与磺脲类药物受体 1(SUR1)基因多态性的关系。方法 抽提正常人 51名及 2型DM患者 10 5例外周血白细胞基因组DNA ,PCR扩增SUR1基因4个多态性位点的区域 ,用限制性酶切片段长度多态性分析其基因型 ,并用测序证实不同酶切图形基因型的准确性。结果 SUR1基因 16号外显子 -3t→c的多态性在 2型DM和正常人群之间差异无显著性。研究人群未发现SUR1基因 18号外显子 (ACC→ACT ,T761T)和 3 1号外显子 (R12 73R ,AGA→AGG)的多态性变化。SUR1基因 3 3号外显子 13 70位 (TCC→GCC ,S13 70A)的多态性变化 ,在 2型DM和正常人群之间差异有显著性 (P <0 .0 5)。结论 SUR1基因可能是中国南方 2型糖尿病发生的易感基因
Objective To investigate the relationship between the occurrence of type 2 diabetes mellitus (DM) and the sulfonylurea receptor 1 (SUR1) gene polymorphism in southern Chinese population. Methods The genomic DNA of 105 peripheral blood leukocytes from 51 normal subjects and 2 DM patients were extracted and the polymorphism sites of SUR1 gene were amplified by polymerase chain reaction (PCR). The genotypes of the 4 polymorphisms were analyzed by restriction fragment length polymorphism , And sequencing confirmed the accuracy of different digestion pattern genotypes. Results Polymorphism of SUR1 gene exon 16 at -3t → c was not significantly different between type 2 DM and normal subjects. The study population found no changes in the polymorphisms of SUR1 exon 18 (ACC → ACT, T761T) and exon 3 (R12 73R, AGA → AGG). Polymorphism of SUR1 gene exon 13 70 (TCC → GCC, S13 70A) was significantly different between type 2 DM and normal population (P <0.05). Conclusion The SUR1 gene may be a susceptibility gene to type 2 diabetes in southern China