中国2型糖尿病人中CYP2C8、CYP2C9基因多态性

目的：查明CYP2C9、CYV2C8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）A-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（-5insertt）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（-5insertt）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CYP2C8IVS2（-5insertt）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，CYP2C81VS2（-5insertt）突变体发生频率为43．0％，其是否影响CYV2C8的代谢活力有待于进-步研究。

Genetic polymorphisms of CYP2 C8 and CYP2 C9 in Chinese type 2 diabetes mellitus

AIM: To identify the frequencies and distributive characteristics of CYP2C8 and CYP2C9 in Chinese type 2 diabete mellitus. METHODS: The functional allele CYP2C8~ * 3, CYP2C8P404A, CYP2C9~* 3 were detected by PCR-RFLP and DHPLC methods in 222 T2DM patients. The CYP2C8IVS 2 (-5 insert t) whose function remains unclear was also detected . The frequency of all these alleles were calculat-ed. RESULTS: The alleles of CYP2C8~* 3 and P404A were not found in 222 T2DM patients. The allelic frequency of CYP2C8IVS2 (-5insert t) and CYP2C9~* 3 were 43 % and 2.48 % , respectively. There was no significant difference between the male and female on CYP2C8 IVS2 (-5insert t) and CYP2C9~* 3 alleles.The allelic frequency of CYP2C8IVS2 (-5insert t) combined with CYP2C9~* 1~* 3 was 6.3% . There was no significant difference between the male and female on it, too. CONCLUSION: The frequency of CYP2C9~* 3 was 2.48% in Chinese T2DM patients. The alleles of CYP2C8~* 3 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.