脂联素基因H241P突变与老年人2型糖尿病  

Association of H241P mutation in adiponectin gene with type 2 diabetes

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

机构地区：[1]安徽医科大学第一附属医院内分泌科,合肥市230032

出　　处：《中华老年医学杂志》2005年第5期348-350,共3页Chinese Journal of Geriatrics

基　　金：安徽省卫生厅科研基金资助项目(2002A008);安徽省教委科研基金资助项目(2003kj229)

摘　　要：目的　观察人脂联素基因(apM1)H241P突变与老年人2 型糖尿病的关系。　方法　选取372例无亲缘关系的安徽省汉族老年人,其中糖耐量正常者168 例(对照组),2 型糖尿病患者204例(糖尿病组);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 βcell)估测胰岛β细胞胰岛素分泌及外周组织胰岛素敏感性;采用聚合酶链反应单链构象多态性(PCR SSCP)方法对apM1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)糖尿病组发现apM1基因H241P突变8例(3 9%),对照组中仅发现1例(0 6%);(2)9例突变携带者均为肥胖症患者,均正在服用调脂药,8 例服用降压药,4 例与遗传有关。　结论　apM1 基因H241P突变与安徽省汉族老年人2型糖尿病发病有关。Objective To investigate the impact of H241P mutation in the adiponectin gene on type 2 diabetes mellitus in the elderly of Chinese Hans Methods The study population consisted of 168 subjects with normal glucose tolerance(NGT) and 204 with type 2 diabetes mellitus of the elderly of Chinese Han residents in Anhui province The islet beta cell insulin secretion and tissue insulin sensitivity were assessed by formulae of homeostasis model assessment Polymerase chain reaction single strand conformation polymorphism (PCR SSCP) was used to determine whether mutation exist in partial exon 3 Then, exact mutation was performed by automated DNA direct sequencing Results (1) Eight subjects with H241P mutation at position 722 bp relative to the translation start site was found in T2DM group(3 9%) and only one in NGT group(0 6%) (2) All subjects carrying H241P mutation suffered from abdominal obesity, while receiving medication for lipid abnormalities Eight of nine subjects were taking antihypertensive drug Four of nine were related with genetic affinity Conclusions H241P mutation in adiponectin gene has an impact on type 2 diabetes mellitus in the elderly of Chinese Han

关 键 词：老年人 聚合酶链反应-单链构象多态性 胰岛β细胞功能指数 2型糖尿病患者 胰岛素抵抗指数 DNA直接测序 2型糖尿病发病 人脂联素基因 胰岛素敏感性 M1基因 胰岛素分泌 肥胖症患者 亲缘关系 外周组织 基因突变 安徽省 对照组 

分 类 号：R587.1[医药卫生—内分泌]