瘦素基因突变芯片检测与2型糖尿病的相关性研究  

Association study of microarray-based mutation detection in leptin gene with type 2 diabetes

作　　者：饶高峰[1] 陈恩福[1] 林海洋[1] 吴金友[1] 曾爱平[1] 

机构地区：[1]温州医学院附属温岭医院内分泌科,浙江温岭317500

出　　处：《中国预防医学杂志》2009年第8期702-704,共3页Chinese Preventive Medicine

基　　金：浙江省温岭市金桥工程科研项目资助(20070001)

摘　　要：目的探讨瘦素基因(LEP,leptin)5′非编码区中C-2549A、G19A突变与2型糖尿病的相关性。方法收集血样标本其中2型糖尿病患者25例、1型糖尿病患者14例、正常健康人20例,提取基因组DNA。针对LEP基因SNP,优化引物、探针并制备基因多态性检测芯片。利用该基因芯片检测3组受检者基因组DNA中leptin基因突变并进行统计分析。结果在受检者中检测到瘦素基因C-2549A、G19A两个位点的野生型、杂合突变型及纯合突变型三种基因型。瘦素基因C-2549A位点突变的G/A基因型发生频率在2型糖尿病患者组为8.0%与1型糖尿病患者组为7.1%和正常对照组10%相比差异无统计学意义;G19A位点突变G/A基因型发生频率在2型糖尿病患者组为52.0%显著高于1型糖尿病患者组21.5%和正常对照组20.0%(P<0.05)。结论瘦素基因G19A突变可能与2糖尿病存在相关性。Objective To investigate the association of gene mutation of C-2549A, G19A in the 5＇ non-coding regions of leptin （LEP） with type 2 diabetes. Methods Blood specimens were collected from 25 patients with type 2 diabetes, 14 patients with type 1 diabetes, and 20 normal volunteers. Genomic DNA was extracted. The primers and probes for genotyping the gene mutation were optimized and an oligonucleotide microarray was prepared. The mutations of the leptin gene in DNA specimens of the above 3 groups were genotyped and statistically analyzed. Results The wild type, heterozygous and homozygous mutants of C-2549A and G19A of leptin were detected in the subjects. The incidences of mutant base of C-2549A were of no significant differences among patients with type 2 diabetes （8.0%）, patients with type 1 diabetes （7.1%） and normal volunteers （ 10.0% ）, whereas the incidence of mutant base of G19A was significantly higher （ P 〈 0. 05） in patients with type 2 diabetes （52.0%） than in patients with type 1 diabetes （21.5%） and normal volunteers （20. 0% ）. Conclusion It is indicated that the mutant base of G19A in LEP associates with type 2 diabetes.

关 键 词：瘦素 基因突变 2型糖尿病 

分 类 号：R587.1[医药卫生—内分泌]