瘦素受体基因多态性与2型糖尿病的关系及其对血脂的影响  

Leptin receptor gene polymorphism in type 2 diabetes and its effect on plasma lipid levels

作　　者：鲁红云[1] 舒晓春[1] 薛青[1] 张艳霞[1] 叶礼红[1] 沈晶[1] 谢丹红[1] 

机构地区：[1]中山大学第五医院内分泌科,广东珠海519000

出　　处：《第四军医大学学报》2005年第1期60-63,共4页Journal of the Fourth Military Medical University

摘　　要：目的 :探讨瘦素受体 (Lepr)基因多态性与 2型糖尿病的关系及其对血脂水平的影响 ,并验证用口腔脱落细胞制备DNA模板的可行性 .方法 :同时取口腔脱落细胞和静脉血白细胞 ,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 (PCR RFLP) ,和PCR产物测序技术 ,检测 10 6例 2型糖尿病患者 ,10 2例正常糖耐量组的Lepr外显子 2 0的基因多态性 ,常规方法测定血脂水平 .结果 :口腔脱落细胞和静脉血白细胞分子生物学检测的结果完全一致 .在所测对象中 ,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 .0 % .糖尿病组 30 5 7位基因变异频率高于正常糖耐量组 (P <0 .0 5 ) .且变异后的 2型糖尿病患者AA型具有更高的三酰甘油和低密度脂蛋白胆固醇水平 (P <0 .0 5 ) ,和更低的高密度脂蛋白胆固醇水平 (P <0 .0 1) .结论 :Lepr第 30 5 7位核苷酸基因多态性可能通过调节机体脂质代谢、影响机体局部体脂分布等途径参与 2型糖尿病的发生 .AIM: To investigate leptin receptor gene polymorphism in type 2 diabetes and its effect on plasma lipid levels, and to verify the feasibility of a new detective method for diabetic molecular biological research. METHODS: Genomic DNA was extracted from oral epithelial cells and lymphocytes. Hemi-nested PCR-RFLP and PCR-direct sequence analysis were conducted to detect the polymorphisms of leptin receptor gene exon 20 in 106 cases of type 2 diabetes and 102 cases of normal glucose tolerances. The plasma lipid levels were measured routinely. RESULTS: The coherent of PCR products from oral epithelial cells and lymphocyte DNA was 100%. The variant frequencies at nucleotide 2927 C→A transversion and at 3057 G→A transversion were 100% and 75%, respectively. The variant frequencies at nucleotide 3057 were higher in diabetes cases compared with those in control (P<0.05). In type 2 diabetic group, AA genotype at nucleotide 3057 had higher levels of triglyceride (TG) and low density lipoprotein cholesterol (LDL) (P<0.05), and lower levels of high density lipoprotein cholesterol (HDL) (P<0.01). CONCLUSION: The polymorphism of LEPR gene 3057 probably contributes to the onset of type 2 diabetes by regulating lipid metabolism and affecting the distribution of local body mass.

关 键 词：糖尿病 非胰岛素依赖型 瘦素受体 基因多态性 血脂 

分 类 号：R587.1[医药卫生—内分泌]