脂联素基因R221S突变与2型糖尿病的关系  

Association of R221S mutation in adiponectin gene with type 2 diabetes

作　　者：汝颖[1] 王长江[1] 王佑民[1] 章秋[1] 胡红琳[1] 

机构地区：[1]安徽医科大学第一附属医院内分泌科,合肥230022

出　　处：《中华糖尿病杂志（1006-6187）》2004年第6期390-392,共3页

基　　金：安徽省卫生厅科研基金资助项目 (2 0 0 2A0 0 8) ;安徽省教委科研基金资助项目 (2 0 0 3kj2 2 9)

摘　　要：目的　观察脂联素基因 (apM1)R2 2 1S突变与 2型糖尿病 (T2DM )的关系。　方法　选取 396例无亲缘关系的安徽地区汉族人 ,其中正常糖耐量者 14 8名 ,T2DM者 2 4 8名。行口服葡萄糖耐量试验 ,于 0h及 2h测血糖及胰岛素。用稳态模式胰岛素抵抗指数 (HOMA IR)及胰岛 β细胞功能指数 (HOMA β)估测胰岛 β细胞胰岛素分泌及外周组织胰岛素敏感性。用体质指数及腰臀比评估体脂含量及分布。采用聚合酶链反应 单链构象多态性方法对apM 1基因突变进行初筛分析 ,并对不同带型的标本进行DNA直接测序。　结果　 (1)在受试者中 ,共发现apM1基因R2 2 1S突变 6例 ,均属T2DM组 ,突变频率为 0 0 2 4。 (2 ) 6例突变携带者均为腹型肥胖症患者 ,均在服用调脂药物 ,5例在服用降压药。　结论　apM 1基因R2 2 1S突变可能与安徽地区汉族人T2DM相关。Objective To investigate the impact of R221S mutation in the adiponectin gene (apM1) on type 2 diabetes(T2DM) in Chinese Han Methods The studied population consisted of 396 Chinese Han residents in Anhui province They included 148 subjects with normal glucose tolerance (NGT) and 248 with T2DM Plasma glucose and insulin were measured at 0 and 2 h during oral 75 g glucose tolerance test The islet beta cell insulin secretion and tissue insulin sensitivity were assessed by formulae of homeostasis model assessment (HOMA IR)= (FPG×FIns)/22 5 & HOMA β =20×FIns/(FPG -3 5) Height, weight, and circumferences of waist and hip were measured to calculate body mass index(BMI) and waist to hip ratio(WHR) Firstly, polymerase chain reaction single strand conformation polymorphism (PCR SSCP) was used to determine whether mutation exist in apM1 gene Then, exact mutation was checked by automated DNA direct sequencing Results (1) Six subjects with R221S mutation was found in the studied population at position 661bp relative to the translation start site in apM1 gene The 6 cases were all in T2DM group, and the mutation frequency is 0 024 (2) All subjects with T2DM carrying R221S mutation also suffered from abdominal obesity, while receiving medication for lipid abnormalities And five of six subjects were taking antihypertensive drug Conclusion R221S mutation in apM1 gene may associate with T2DM in Chinese Han

关 键 词：突变 T2DM 基因 脂联素 服用 2型糖尿病 汉族人 调脂药物 腹型肥胖 受试者 

分 类 号：R587.1[医药卫生—内分泌]