脂联素基因单核苷酸多态性与2型糖尿病的相关性研究

[目的]探讨脂联素基因H241P突变与2型糖尿病的关系.[方法]随机选取377例无亲缘关系的吉林省延边地区朝鲜族和汉族人群,其中糖耐量正常者为195名,2型糖尿病患者为182名;行口服葡萄糖耐量实验,于实验前及实验后2h时检测血糖;用体重指数及腰臀比值评估体脂肪含量及分布;采用聚合酶链反应-单链构象多态性方法对apM1基因突变进行初筛分析,并对异常带型标本进行基因序列测定.[结果]在研究对象中发现脂联素基因H241P突变者为1例,属于2型糖尿病组,突变频率为0.5%.[结论]脂联素基因H241P突变可能不是2型糖尿病的易感因素.

Relationship between adiponectin gene polymorphism and type 2 diabetes mellitus

OBJECTIVE To investigate the relationship between the H 241 P mutation in the adiponectin gene(apM 1) and type 2 diabetes(T 2 DM).METHODS The studied population was consisted of 377 Han nationality and Korean-Chinese residents in Yanbian area,Jilin province,in witch 195 cases of normal glucose tolerance(NGT) and 182 cases of T 2 DM.Plasma glucose was measured at 0 and 2 h during oral glucose tolerance test.The content and distribution of body fat was evaluated by the body mass index(BMI) and waist to hip ratio(WHR).The screening for mutation of apM 1 gene was performed by polymerase chain reaction single strand conformation polymorphism(PCR-SSCP),and then the exact mutation was checked by automated DNA direct sequencing.RESULTS The H 241 P mutation was found in one case of T 2 DM and the mutation frequency was 0.5%.CONCLUSION H 241 P mutation in apM 1 gene was not susceptibility of gene for T 2 DM.