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目的:考察瘦素基因(leptin,LEP)5′非编码区中C-2549A,G19A与肿瘤坏死因子α(tumor necrosis factorα,TNFα)基因启动子区域内G-376A、G-308A、G-238A、G-163A单核苷酸多态性(SNPs)与多囊卵巢综合征(polycysticovary syndrome,PCOS)发病的相关性。方法:收集78例PCOS患者(肥胖PCOS患者50例,非肥胖PCOS患者28例)及健康对照组40例血样标本,提取基因组DNA。针对LEP及TNFα基因SNPs,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LEP及TNFα基因的SNP并进行统计分析。结果:在受检者中检测肿出瘤坏死因子α基因多态性,多态性位点G-376A、G-163A检测全部为野生型G/G,多态性位点G-308A与G-238A检测到杂合型突变子G/A,未见纯合型突变子A/A;G-308A杂合突变子G/A发生频率在肥胖PCOS发病患者组12.0%与非肥胖PCOS发病患者组0.0%和正常对照组10.0%无显著性差异;G-238A杂合突变子G/A发生频率在肥胖PCOS发病患者组16.O%与非肥胖PCOS发病患者组7.1%和正常对照组15.0%无显著性差异。在受检者中检测到瘦素基冈C-2549A,G19A两个多态性位点的野生型、杂合突变型及纯合突变型三种基因型。瘦素基因G-2549A位点突变基因型发生频率在肥胖PCOS发病患者组为8.0%,非肥胖PCOS发病患者组为7.1%,正常对照组为10.0%,差别无统计学意义;G19A位点突变基因型的发生频率在肥胖PCOS发病患者组52.0%,非肥胖PCOS发病患者组为21.4%,正常对照组为20.0%,差别有统计学意义(P<0.05)。结论:瘦素基因G19A单核苷酸多态性可能与肥胖PCOS发病患者存在相关性。
Objective: To investigate the expression of G-376A, G-308A and G-238A in the promoter region of C-2549A, G19A and tumor necrosis factorα (TNFα) genes in the 5 ’untranslated region of leptin (LEP) , G-163A single nucleotide polymorphisms (SNPs) and polycystic ovary syndrome (PCOS). Methods: Blood samples of 78 PCOS patients (50 obese PCOS patients, 28 non-obese PCOS patients) and healthy controls were collected and genomic DNA was extracted. For LEP and TNFα gene SNPs, primers and probes were optimized and a gene chip for gene polymorphism was prepared. Using this gene chip, SNPs of LEP and TNFα gene in genomic DNA of three groups of subjects were detected and statistically analyzed. Results: Tumor necrosis factor-α gene polymorphism was detected in the subjects. The polymorphism sites G-376A and G-163A were all detected as wild-type G / G, G-308A and G -238A detected heterozygous mutant G / A, no homozygous mutant A / A; G-308A heterozygous mutant G / A frequency of occurrence in obese patients with PCOS incidence of 12.0% of patients with non-obese PCOS patients The frequency of G / A heterozygous mutation of G-238A was significantly higher in patients with obese PCOS than those in patients with obese PCOS (7.1% vs. 7.1% in patients with non-obese PCOS) and 15.0% in patients with normal controls % No significant difference. Three genotypes of wild type, heterozygous mutant and homozygous mutant of two polymorphic loci of leptokadryon C-2549A and G19A were detected in the subjects. The genotype frequency of G-2549A mutation in leptin gene was 8.0% in patients with obese PCOS, 7.1% in patients with non-obese PCOS and 10.0% in normal controls, with no significant difference. G19A mutation The frequency of genotypes was 52.0% in patients with obese PCOS, 21.4% in patients with non-obese PCOS, and 20.0% in controls. The difference was statistically significant (P <0.05). Conclusion: The G19A single nucleotide polymorphism of leptin gene may be correlated with the pathogenesis of obese PCOS.