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目的:研究中国上海地区汉族人2型糖尿病(T2DM)家系谷酰胺-6-磷酸果糖氨基转移酶(GFPT2)基因单核苷酸多态性(SNP),探讨其与T2DM的关系.方法:应用聚合酶链式反应-限制性内切酶片段长度多态性(PCR-RFLP)技术,对来自于75个T2DM家系共335(患者196)人的GFPT2基因中4个多态性位点(IVS2+26G>A,rs2303008,rs2303007和rs1035411)进行基因型研究,对所有家系成员进行传递不平衡检验(TDT)和同胞传递不平衡检验(STDT),并以Gene-hunter软件分析单倍型传递情况,同时进行人体测量学、血糖、血脂等临床参数的检测.结果:①经TDT-STDT检验,未发现单个GFPT2基因SNP位点在T2DM患病子代中优势传递(P>0.05);②所检测的4个SNPs所构成的单倍型在患病子代中未见优势传递(P>0.05);③所检测的4个SNPs各自的不同基因型及不同等位基因之间生理、生化指标分析未见异常(P>0.05).结论:上海地区汉族人GFPT2基因存在SNPs,其可能与T2DM的易感性相关,但可能不是中国上海地区汉族人群T2DM发病的主要易感基因位点.
Objective: To investigate the single nucleotide polymorphism (SNP) of glutamine-6-phosphate fructosyl aminotransferase (GFPT2) gene in type 2 diabetes (T2DM) of Chinese Han population in Shanghai, China and its relationship with T2DM.Methods: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the polymorphism of four polymorphic sites (IVS2 +26 G> A, rs2303008, rs2303007, and rs1035411), TDT and STDT were performed on all pedigree members and haplotype transfer was analyzed using Gene-hunter software , At the same time, the clinical parameters such as anthropometry, blood glucose, blood lipids were detected.Results: ①There was no significant SNP loci of single GFPT2 gene in the offspring of T2DM by TDT-STDT test (P> 0.05) The detected haplotypes of 4 SNPs showed no superiority transfer in the diseased offspring (P> 0.05). ③The physiological and biochemical indexes of different genotypes and alleles of 4 SNPs tested No abnormalities were found in the analysis (P> 0.05) .Conclusion: There are SNPs in GFPT2 gene in Shanghai Han population, T2DM susceptibility, but may not be the predominant susceptibility locus of T2DM in Chinese Han population in Shanghai, China.