脂联素基因H241P突变与老年人2型糖尿病

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。

Association of H241P mutation in adiponectin gene with type 2 diabetes

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