摘要
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
Objective To st ud y the association of single nucleotide polymorphisms (SNP) of the phosphoenolpyr uvate carboxykinase (PCK1) gene in Chinese type 2 diabetic patients. Methods SNPs in the PCK1 gene were detected by PCR direct sequencing and only cSNP were genotyped by PCR direct sequencing in 191 type 2 d iabetic patients and 191 normal controls. Results Eleven SNPs were found, among them, 3 SNPs (P/-1099G→A, P/-969G→A, P/-234G →C) were in the promotor region, 2 SNPs (I3/379A→T, I5/85C→G) in the intron r egions and 6 SNPs (E2/69C→T, E4/47C→T, E4/56C→T, E4/83C→T, E4/144G→C, E7/17 9G→A) in the exon regions. However, only E4/144G→C was the cSNP with amino aci d substitution (Leu184Val) and was further genotyped in 191 type 2 diabetes and the control group. There were GG:106, GC:77 and CC:8 in type 2 diabetes and GG:1 30, GC:58, CC:3 in the controls. The genotype frequency and allele frequency of this SNP were all significantly different between type 2 diabetes and normal con trols (P<0.05 and P<0.01, respectively ). Conclusion The data implicate that the PCK1 Leu184Val polymorphism may be associated with the pathogenesis of type 2 diabete s in eastern Chinese population.
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2003年第5期368-370,共3页
Chinese Journal of Endocrinology and Metabolism
基金
国家科委973重大基础科研基金资助项目(1 9980 50 0 2 )
关键词
磷酸烯醇式丙酮酸羧激酶
基因多态性
2型糖尿病
基因分型
Diabetes mellitus, non-insulin-depend ent
Phosphoenolpyruvate carboxy kinase
Polymor-phism, single nucleotide
