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目的 研究华东地区汉族人群中磷酸烯醇式丙酮酸羧激酶 (PCK1)基因的单核苷酸多态性(SNP)与 2型糖尿病的相关性。方法 采用直接测序法对PCK1基因作SNP筛查 ,并按病例 对照研究选用直接测序法对改变氨基酸编码的cSNP作进一步的基因分型。结果 共检出 11个SNPs ,其中出现在启动子区 3个 (P/-10 99G→A ,P/-969G→A ,P/-2 3 4G→C) ,内含子区 2个 (I3 /3 79A→T ,I5/85C→G) ,外显子区 6个SNP(E2 /69C→T ,E4/47C→T ,E4/56C→T ,E4/83C→T ,E4/14 4G→C ,E7/179G→A) ,而改变氨基酸编码的cSNP只有E4/14 4G→C ,即Leu184Val。进一步基因分型后显示 ,2型糖尿病组中GG :10 6,GC :77,CC :8,而正常对照组中GG :13 0 ,GC :58,CC :3 ,这两组间的基因型频率差异有显著性 (P <0 .0 5) ,而且两组间等位基因频率差异也有显著性 (P <0 .0 1)。结论 PCK1基因的Leu184Val多态性与华东地区汉族人群 2型糖尿病的发生可能存在一定相关性
Objective To investigate the association between single nucleotide polymorphism (SNP) of phosphoenolpyruvate carboxykinase (PCK1) gene and type 2 diabetes mellitus in Han Chinese in East China. Methods The direct sequencing method was used to screen the PCK1 gene for SNP. According to the case-control study, direct sequencing was used to further change the amino acid-encoded cSNP for further genotyping. RESULTS: A total of 11 SNPs were detected, including 3 in the promoter region (P / -1099G → A, P / -969G → A, P / -23 4G → C) and two intron regions / 3 79A → T, I5 / 85C → G), 6 SNPs (E2 / 69C → T, E4 / 47C → T, E4 / 56C → T, E4 / 83C → T and E4 / 14 4G → C, E7 / 179G → A), while the altered amino acid encoded cSNP only had E4 / 14 4G → C, ie, Leu184Val. After further genotyping, the GG: 106, GC: 77 and CC: 8 in type 2 diabetes mellitus group, while the GG: 13 0, GC: 58 and CC: 3 in normal control group The frequency difference was significant (P <0.05), and there was also significant difference in allele frequency between the two groups (P <0.01). Conclusions There may be a correlation between Leu184Val polymorphism of PCK1 gene and type 2 diabetes in Han population of East China