【摘要】 目的:查明CYP2C9、CYP2C8等抗糖尿病药物主要代谢酶的基因多态性在中国2型糖尿病(T2DM)人群中的分布频率和分布特征。方法:运用多聚酶链反应-限制性长度多态性(PCR-RFLP)方法和变性高效液相色谱法(DHPLC)对222名中国T2DM患者进行了有功能意义的CYP2C8*3、CYP2C8P404A和CYP2C9*3,以及可能存在功能意义的CYP2C8IVS2(-5insert t)突变体等等位基因型检测,并计算了各等位基因的频率。结果:222名中国T2DM患者的CYP2C8基因中未检出CYP2C8*3、P404A型,CYP2C8IVS2(-5insert t)和CYP2C9*3等位基因的频率分别为43.0%、2.48%,二者突变等位基因在男、女性别分布中不存在差异(P>0.05),同时为CYP2C8 IVS2(-5i-nsert t)和CYP2C9*1*3基因的频率为6.3%,该联合突变基因型的分布也不存在性别差异(P>0.05)。结论:中国T2DM患者中CYP2C9*3的等位基因频率为2.48%;未检出CYP2C8*3和P404A型,CYP2C8IVS2(-5insert t)突变体发生频率为43.0%,其是否影响CYP2C8的代谢活力有待于进一步研究。更多还原

【Abstract】 AIM:To identify the frequencies and distributive characteristics of CYP2C8 and CYP2C9 in Chinese type 2 diabete mellitus. METHODS:The functional allele CYP2C83, CYP2C8P404A, CYP2C93 were detected by PCR-RFLP and DHPLC methods in 222 T2DM patients. The CYP2C8IVS 2 (-5insert t) whose function remains unclear was also detected. The frequency of all these alleles were calculated. RESULTS: The alleles of CYP2C83 and P404A were not found in 222 T2DM patients. The allelic frequency of CYP2C8IVS2 (-5insert t) and CYP2C93 were 43% and 2.48%, respectively. There was no significant difference between the male and female on CYP2C8 IVS2 (-5insert t) and CYP2C93 alleles. The allelic frequency of CYP2C8IVS2 (-5insert t) combined with CYP2C913 was 6.3%. There was no significant difference between the male and female on it, too. CONCLUSION: The frequency of CYP2C93 was 2.48% in Chinese T2DM patients. The alleles of CYP2C83 and P404 were not found. The incidence of CYP2C8IVS2 (-5insert t) mutant was 43.0%,and whether it has influences on CYP2C8 metabolism activity needs further study.更多还原