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目的 探讨可卡因 安非他明调节转录肽 (CARTpeptides)基因在国人中的多态性及与 2型糖尿病及其临床特征的关系。方法 用聚合酶链反应 单链构象多态 (PCR SSCP)的方法 ,对无亲缘关系的 40 1例华南地区汉族人CART基因的 3个外显子及内含子连接部进行筛查 (包括 180例糖耐量正常者及 2 2 1例 2型糖尿病患者 )并进行测序鉴定。结果 (1)在中国汉族人中存在着CART基因的多态性 ,为DNA链 145 7位上的碱基A缺失 ,位于外显子 3的 3′端非翻译区。等位基因频率为 :A +83 6%、A - 16 4% ,基因型频率为 :A +A +68 9%、A +A - 2 9 4%、A -A - 1 7%。 (2 )在糖尿病组中CART A的等位基因频率为 :A +84 6%、A - 15 4% ,基因型频率为 :A +A +71 9%、A +A 2 5 3 %、A A 2 7% ,CART基因A的缺失与糖尿病无明显关联。 (3 )在糖尿病中有CART基因A缺失的基因型中总胆固醇、高密度脂蛋白胆固醇及低密度脂蛋白胆固醇与对照组有明显差异。结论 中国汉族人中存在着CART基因的多态性 ,此多态性与糖尿病无明显关联 ,但涉及糖尿病脂代谢紊乱。
Objective To investigate the polymorphisms of cAMPpeptides gene in Chinese and its relationship with type 2 diabetes mellitus and its clinical features. METHODS: Three exon and intron junctions of CART gene in 40 Han unrelated Han Chinese were screened by polymerase chain reaction single strand conformation polymorphism (PCR SSCP), including 180 Cases of normal glucose tolerance and 221 cases of type 2 diabetes patients) and sequencing identification. Results (1) There is a polymorphism of CART gene in Chinese Han nationality, which is the deletion of base A at position 145 7 of the DNA strand, which is located in the 3 ’untranslated region of exon 3. The frequencies of alleles were A +83 6% and A - 16 4%. The frequencies of genotypes were A + A +68 9%, A + A - 294% and A - A - 17%. (2) The allele frequencies of CART A in diabetic group were: A + 84 6%, A - 15 4%, genotype frequency was A + A + 71 9%, A + A 2 53%, AA 27%. The absence of CART gene A was not associated with diabetes mellitus. (3) The total cholesterol, high density lipoprotein cholesterol and low density lipoprotein cholesterol in the genotypes with CART gene A deletion in diabetes were significantly different from the control group. Conclusions There is a polymorphism of CART gene in Chinese Han people. There is no obvious association between this polymorphism and diabetes, but it is related to the disturbance of lipid metabolism in diabetes.