遗传 ›› 2004, Vol. 26 ›› Issue (1): 8-12.

• 论文 • 上一篇    下一篇

磺酰脲类受体基因多态性与2型糖尿病的相关性研究

王劲松1;周玲1;成金罗2;沈默宇2 WANG Jin-Song1;ZHOU Ling1;CHENG Jin-Luo2;SHEN Mo-Yu2   

  1. 1.南京医科大学流行病与卫生统计学系,南京 210029; 2.常州市第二人民医院内分泌科,常州 213003 1.Department of Epidemiology,Nanjing Medical University,Nanjing 210029,China; 2.Department of Endocrines,Changzhou Second Hospital,Changzhou 213003,China
  • 收稿日期:1900-01-01 出版日期:2004-02-10 发布日期:2004-02-10

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

  • Received:1900-01-01 Online:2004-02-10 Published:2004-02-10

摘要:
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.

关键词: 2型糖尿病, 磺酰脲类受体1, 基因多态性
Key words,
sulfonylurea receptor 1, non-insulin-dependent diabetes mellitus