脂联素基因R221S、H241P多态性与2型糖尿病的关系  

ASSOCIATION OF R221S AND H241 POLYMORPHISM IN ADIPONECTIN GENE WITH TYPE 2 DIABETES

作　　者：孙连平[1] 王伟杰[2] 杨康鹃[3] 张子波[3] 金雄吉[3] 盛天昕[3] 

机构地区：[1]延边大学基础医学院形态学实验中心,延吉133000 [2]珲春市医院内分泌科 [3]延边大学基础医学院细胞生物学与医学遗传学教研室

出　　处：《现代预防医学》2010年第12期2315-2317,共3页Modern Preventive Medicine

摘　　要：[目的]探讨中国延边地区朝鲜族和汉族人群脂联素基因(apM1)第3外显子R221S、H241P和+1711C﹥T、+1795A﹥G、+1833C﹥A的单核苷酸多态性与2型糖尿病的关联性。[方法]选取377例无亲缘关系的延边地区朝鲜族和汉族人,其中195例糖耐量正常者(NGT)与182例2型糖尿病患者(T2DM),采用聚合酶链反应-单链构象多态性(PCR-SSCP)方法对apM1的多态性进行分析并对变异条带进行基因测序。[结果]脂联素基因的R221S多态在汉族NGT组和朝鲜族T2DM组各发现1例;H241P多态仅在汉族的2型糖尿病组发现1例;未发现脂联素基因3′-UTR区1+1711C﹥T、+1795A﹥G、+1833C﹥A位点的多态性。[结论]脂联素基因R221S、H241P可能不是延边朝鲜族和汉族群体2型糖尿病的易感位点。脂联素基因3′-UTR区+1711C﹥T、+1795A﹥G、+1833C﹥A位点不属于中国延边地区的汉族及朝鲜族群体的SNPs。[Objective] To investigate the relationship between single nucleotide Polymorphisms（SNPs） R221S,H241P and＋1711C﹥T,＋1795A﹥G and ＋1833C﹥A in the exon 3 of adiponectin gene in the Chinese Korean and the Han population with type 2 diabetes mellitus（T2DM） in Yanbian.[Methods] The studied population consisted of 377 Chinese Han and Korean residents in Yanji of Jilin were selected.They included 195 subjects with normal glucose tolerance（NGT） and 182 with T2DM.Firstly,polymerase chain reac tion-single strand conformation polymorphism（PCR-SSCP） was used to determine whether SNPs existed in apM1 gene.Then,exact SNPs were checked by automated DNA direct sequencing.[Results]（1） The R221S polymorphisms of adiponectin gene were found in the Han people with NGT group and in the Koran people with T2DM group;（2） The H241P polymorphism of adiponectin gene was found in one case of the Han people with T2DM group;（3） The ＋1711C﹥T,＋1795A﹥G and ＋1833C﹥A polymorphisms of adiponectin gene（3,-UTR） were not found in the 377 subjects.[Conclusion] The R221S and H241P polymorphisms of adiponectin gene may not the susceptive gene with T2DM in Chinese Korean or Han population of Yanbian area in China.The ＋1711C﹥T,＋1795A﹥G and ＋1833C﹥A of adiponectin gene（3,-UTR） are not SNPs in Chinese Korean or Han population of Yanbian area in China.

关 键 词：脂联素 多态性 单核苷酸 糖尿病 2型 突变 

分 类 号：R587.1[医药卫生—内分泌]