脂联素基因单核苷酸多态性与2型糖尿病的相关性研究

Relationship between adiponectin gene polymorphism and type 2 diabetes mellitus

[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.

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 reaction single strand conformation polymorphism （PCR-SSCP）, and ge th ne was performed by polymerase chain en 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 .