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目的 对可卡因 安非他明调节转录肽 (CART)基因在中国华南地区汉族人多态性情况及其与肥胖的关系进行探讨。方法 本研究用聚合酶链反应 单链构象多态性 (PCR SSCP)的方法 ,对无亲缘关系的正常体重组〔体重指数 (BMI) <2 3kg/m2 者 ,76例〕及BMI≥ 2 3者的超重或肥胖组(10 4例 )CART基因的 3个外显子进行筛查 ,并测序。结果 在正常体重组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 +0 .849、A - 0 .15 1,基因型频率为 :A +A +0 .711、A +A - 0 .2 76、A -A - 0 .0 13 ,已达到Hardy Weinberg遗传平衡。在超重及肥胖组中CART A的等位基因频率为 :A +0 .82 7、A - 0 .173 ,基因型频率为 :A +A +0 .673、A +A - 0 .3 0 8、A -A - 0 .0 19,CART基因A的缺失和超重及肥胖无明显关联。结论 中国汉族人中存在着CART基因DNA链 145 7位上的碱基A缺失 ,此多态性与肥胖无明显关联。
Objective To investigate the association between CART gene in Chinese Han population and its association with obesity in southern China. Methods In this study, unrelated normal body mass index (BMI) <2 3 kg / m 2, 76 cases) and BMI ≥ 2 3 were determined by polymerase chain reaction single strand conformation polymorphism (PCR SSCP) The three exons of CART gene in overweight or obese group (104 cases) were screened and sequenced. Results There was a polymorphism of CART gene in Chinese Han population of normal weight group. It was a base A deletion at position 145 7 of DNA strand, located in the 3 ’untranslated region of exon 3. The allele frequencies were: A +0.849, A - 0.1515, genotype frequency was A + A +0.711, A + A - 0.276, A-A - Hardy Weinberg genetic balance has been reached. The frequencies of alleles of CART A in the overweight and obesity groups were A +0 .82 7 and A - 0.173, and the genotype frequency was A + A +0.6673 and A + A - 0.38 , A-A - 0.019, CART gene A deletion and overweight and obesity no significant correlation. Conclusion There is a deletion of base A at position 145 7 of the CART gene in Chinese Han population. There is no significant association between this polymorphism and obesity.