β细胞素基因多态性与2型糖尿病的相关性

Correlation between gene polymorphism of betacellulin and type 2 diabetes mellitns

目的在陕西人群中筛查β细胞素基因(BTC)外显子1 TGC19GGC、5'非翻译区A-226G的基因多态性,并探讨这两个位点基因多态性与2型糖尿病的相关关系。方法 2型糖尿病患者130例,健康对照96例;分别采用限制性片段长度多态性-PCR、等位基因特异性引物-PCR对两个位点进行基因多态性的筛查。结果在β细胞素基因外显子1 TGC19GGC中,G等位基因、TG基因型频率在2型糖尿病组与健康对照组之间的差异有统计学意义(P<0.05)。在β细胞素基因5'非翻译区A-226G中,G等位基因频率、GG基因型频率在2型糖尿病组与健康对照组之间的差异无统计学意义(P>0.05)。两个位点单体型总体分布在2型糖尿病组与健康对照组之间的差异有统计学意义(P<0.05);利用SHEsis软件分析,两个位点间不存在有意义的连锁不平衡(D'=0.386,r^2=0.009)。结论在陕西人群中,BTC基因外显子1 TGC19GGC、5'非翻译区A-226G存在基因多态性。BTC基因外显子1 TGC19GGC基因多态性与2型糖尿病的发病有相关性;BTC基因5'非翻译区A-226G基因多态性与2型糖尿病的发病无相关性。两个位点不存在有意义的连锁不平衡。

Objective To screen the single nucleotide polymorphyisms of betacellulin（BTC）exon 1 TGC19GGC and 5＇UTR A-226G in the population of Shaanxi province,and to explore their correlation with type 2 diabetes mellitus.Methods A total of 130 patients with type 2 diabetes mellitus and 96 normal controls were enrolled.Single nucleotide polymorphisms of the exon 1 TGC19GGC and A- 226G were screened by restriction fragment length polymorphism-PCR（RFLP-PCR）and single alleles specificity primer-PCR（SASPPCR）. respectively.Results In the betacellulin exon 1 TGC19GGC,there was significant difference in G allele and TG genotype frequencies between type 2 diabetes mellitus group and normal control group（P0.05）.In the 5＇UTR A-226G,there was no significanl difference in G allele and GG genotype frequencies between type 2 diabetes mellitus group and normal control group（P0.05）.The haplotype frequency of the two sites was significantly different between type 2 diabetes mellitus group and normal control group（P 0.05）.There was no linkage disequilibrium of the two sites by SHEsis software（D＇=0.386,r^2=0.009）.Conclusion There are single nucleotide polymorphyisms in betacellulin exon 1 TGC19GGC and BTC 5＇UTR A-226G in the population of Shaanxi province. The single nucleotide polymorphyism of betacellulin exon 1 TGC19GGC is significantly correlated with type 2 diabetes mellitus,while the single nucleotide polymorphyism of betacellulin 5＇UTR A-226G is not correlated with type 2 diabetes mellitus.There is no linkage disequilibrium between BTC exon 1 TGC19GGC and BTC 5＇UTR A-226G.