磺酰脲类受体基因多态性与2型糖尿病的相关性研究

研究磺酰脲类受体1（SUR1）基因外显子16-3c/t多态性在中国某南方汉族人群中是否为2型糖尿病的致病基因座。采用聚合酶链反应-限制酶酶切片段长度多态性（PCR-RFLP）方法对南方汉族46个2型糖尿病高发家系成员的SUR1基因外显子16的多态性进行分析。利用Mantel-Haenszel分层分析研究该基因座多态性与2型糖尿病的关系。在高发家系人群中，SUR1基因外显子16-3c/t多态性的基因型频率为：cc型29.3%、ct型507%、tt型20%，c等位基因频率为54.7%；患者组基因型频率为：cc型30.2% 、ct型53.8%、tt型16.0% ，c等位基因频率为57.1% ；未患病亲属组基因型频率为：cc型28.3% 、ct型47.2%、tt型24.5%，c等位基因频率为519%，两组间基因型和等位基因的差异经检验无统计学意义（分别为χ2=3.224,P=0.199；χ2=1.250,P=0264）。在性别、吸烟、饮酒、肥胖、高血压等混杂因素中的频率差异亦无显著性。c等位基因频率低于北方汉族人。在中国某南方汉族2型糖尿病高发家族人群中，未发现SUR1基因外显子16-3c/t多态性与2型糖尿病存在关联，该基因座可能不是该人群的致病基因。Abstract:To study whether the 3c/t polymorphism of the sulfonylurea receptor 1 (SUR1) gene exon16 increased the risk of type 2 diabetes mellitus in type 2 diabetes mellitus pedigrees in Han population in south area of China.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used in 46 type 2 diabetes mellitus pedigrees.The polymorphism in SUR1 was tested and analyzed by Mantel-Haenszel χ2 test.Frequencies of SUR1-3c/t polymorphism had no significant difference between type 2 diabetes mellitus and normal relatives（genotypes χ2=3.224,P=0.199;frequency of allele χ2=1.250,P=0.264）.In all subjects,type 2 diabetes mellitus and normal relatives,SUR1-3c/t genotypes were listed (cc:29.3%,30.2%,28.3%;ct:50.7%,53.8%,47.2%;tt:20%,16.0%,24.5% respectively).The frequencies of c were 54.7%,57.1% and 51.9% respectively.The frequency of c is lower than Han population in northern China.The results show that SUR1 exon16-3c/t polymorphism is not associated with type 2 diabetes mellitus in the population.

Study on the Relationship between Sulfonylurea Receptor 1 Gene Polymorphism and Type 2 Diabetes Mellitus

To study whether the 3c/t polymorphism of the sulfonylurea receptor 1 (SUR1) gene exon16 increased the risk of type 2 diabetes mellitus in type 2 diabetes mellitus pedigrees in Han population in south area of China. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used in 46 type 2 diabetes mellitus pedigrees. The polymorphism in SUR1 was tested and analyzed by Mantel-Haenszel chi(2) test. Frequencies of SUR1-3c/t polymorphism had no significant difference between type 2 diabetes mellitus and normal relatives (genotypes chi(2)=3.224, P=0.199; frequency of allele chi(2)=1.250, P=0.264). In all subjects, type 2 diabetes mellitus and normal relatives, SUR1-3c/t genotypes were listed (cc: 29.3%, 30.2%, 28.3%; ct: 50.7%, 53.8%, 47.2%; tt: 20%, 16.0%, 24.5% respectively). The frequencies of c were 54.7%, 57.1% and 51.9% respectively. The frequency of c is lower than Han population in northern China. The results show that SUR1 exon16-3c/t polymorphism is not associated with type 2 diabetes mellitus in the population.