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目的 探讨瘦素受体 (leptin receptor,L R)基因多态性与 2型糖尿病和肥胖的关系 ,并验证用口腔脱落细胞取代静脉血制备 DNA模板的可能性。方法 应用半巢式聚合酶链反应 ,结合限制性酶切片段长度多态性 ,检测 2 37名中国湖北汉族人的 L R基因外显子 2 0的基因多态性 ,分析其与肥胖及 2型糖尿病各临床变量之间的关系。结果 被测对象 L R外显子 2 0存在明显的基因多态性 ,在所有检测对象中 ,+2 92 7位核苷酸的等位基因均为 A;而 +30 5 7位核苷酸 G→ A变异频率为 75 %。糖尿病组和正常糖耐量组+30 5 7位基因变异频率比较差异有显著性 (81.3% vs6 8.4% ,P<0 .0 5 )。多因素 L ogistic回归分析发现 :+30 5 7位 G→ A变异与 2型糖尿病患者体重指数、腰围 /臀围、舒张压、甘油三酯、总胆固醇正相关 (P<0 .0 5 ) ,与高密度脂蛋白负相关 (P<0 .0 1)。结论 L R第 +30 5 7位核苷酸基因多态性可能通过影响机体局部体脂分布和脂质代谢、调节胰岛素敏感性等参与 2型糖尿病的发生。
Objective To investigate the relationship between leptin receptor (L R) gene polymorphism and type 2 diabetes mellitus and obesity and to verify the possibility of preparing DNA template by oral exfoliated cells instead of venous blood. Methods Semi-nested polymerase chain reaction (PCR) and restriction fragment length polymorphism (PCR-RFLP) were used to detect the polymorphism of exon 2 of LR gene in 237 Chinese Han population of Hubei Province, and their association with obesity and type 2 The relationship between various clinical variables of diabetes. Results There was a significant genetic polymorphism in exon 20 of LR, and the allele of +2 92 7 nucleotides was A in all tested subjects; while the +30 5 7 nucleotides G → A mutation frequency of 75%. There was a significant difference in frequency of +30 5 7 gene mutation between diabetic group and normal glucose tolerance group (81.3% vs 8.42%, P <0.05). Multivariate L ogistic regression analysis showed that the +30 57 G → A mutation was positively correlated with body mass index, waist / hip circumference, diastolic blood pressure, triglyceride and total cholesterol in T2DM patients (P <0.05) Negatively correlated with high density lipoprotein (P <0.01). Conclusion The polymorphism of the nucleotide sequence at the 5’307th nucleotide of L R may be involved in the development of type 2 diabetes by influencing the body fat distribution, lipid metabolism and insulin sensitivity.