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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 relationship between C-2549A, G19A mutation and type 2 diabetes mellitus in the 5 ’untranslated region of leptin gene. Methods Blood samples were collected from 25 patients with type 2 diabetes mellitus, 14 patients with type 1 diabetes mellitus and 20 healthy individuals and genomic DNA was extracted. For LEP gene SNP, primers and probes were optimized and gene polymorphism detection chip was prepared. The gene chip was used to detect leptin gene mutations in genomic DNA of three groups of subjects and statistical analysis was performed. Results Three genotypes of wild type, heterozygous mutant and homozygous mutant of leptin gene C-2549A and G19A were detected in the subjects. The frequency of G / A genotype mutation of leptin gene C-2549A site was 8.0% in type 2 diabetes mellitus group and 7.1% in type 1 diabetes mellitus group compared with 10% in normal control group. There was no significant difference in G19A The mutation frequency of G / A genotype was 52.0% in type 2 diabetic patients and 21.5% in type 1 diabetic patients and 20.0% in normal controls (P <0.05). Conclusion Leptin gene G19A mutation may be related to 2 diabetes.