卡马西平治疗相关基因的基因多态性在中国汉族健康受试者中的分布研究  

Genetic polymorphism distribution of associated with carbamazepine therapy in healthy volunteers of Han Chinese

作　　者：李六水[1] 夏彬彬[1] 夏瑞 何倩 李祥 陈世才[1] LI Liu - shui;XIA Bin - bin;XIA Rui;HE Qian;LI Xiang;CHEN Shi -cai(Clinical Pharmacy Center, Beijing Luhe Hospital, Capital Medical University, Beijing 101149, China)

机构地区：[1]首都医科大学附属北京潞河医院临床药学中心,北京101149

出　　处：《中国临床药理学杂志》2018年第10期1246-1249,共4页The Chinese Journal of Clinical Pharmacology

基　　金：北京市通州区科技计划基金资助项目(KJ2017CX036-06)

摘　　要：目的研究中国汉族健康受试者中卡马西平治疗相关基因细胞色素P(CYP)3A4*1B、CYP 3A4*1G、CYP 3A5*3和人白细胞抗原(HLA)-B*1502的基因多态性的分布。方法随机抽取187例中国汉族健康受试者,用荧光染色原位杂交技术进行相关基因分型,并进行统计分析。结果 CYP 3A4*1B位点全部为AA型(100%);CYP 3A4*1G位点中CC、CT、TT型分别为62.57%,34.22%,3.21%;CYP 3A5*3位点中GG、AG、AA型分别占58.29%,34.76%,6.95%;HLA-B*1502位点中CC型和CG型分别占89.30%和10.70%,未见GG型。结论 CYP 3A4*1B、CYP 3A4*1G、CYP3A5*3和HLA-B*1502基因多态性在中国汉族健康受试者中的分布较普遍,突变率较高,部分与既往的研究结果基本一致,也与部分其他人群存在较大差异。Objective To survey the genetic polymorphism distribution of cytochrome P(CYP） 3 A4＊ 1 B,CYP 3 A4＊ 1 G,CYP 3 A5＊ 3,human leukocyte antigen(HLA）-B＊ 1502 gene associated with carbamazepine therapy in healthy volunteers of Han Chinese. Methods A total of 187 Han Chinese healthy volunteers were randomly selected and their related genotypes were analyzed by fluorescence in situ hybridization. Statistical analysis was performed. Results CYP 3 A4 ＊ 1 B loci were all AA genotype(100%）. The genotypes of CC,CT and TT in CYP 3 A4 ＊ 1 G gene locus accounted for 62. 57%,34. 22% and 3. 21%,respectively; GG,AG and AA genotypes in CYP3 A5 ＊ 3 locus accounted for 58. 29%,34. 76% and 6. 95%; the CC and CG genotypes in HLA-B＊ 1502 locus accounted for 89. 30% and 10. 70% respectively,but no GG genotype was found. Conclusion The CYP 3 A4 ＊ 1 B,CYP3 A4 ＊ 1 G,CYP 3 A5＊ 3 and HLA-B＊ 1502 gene polymorphisms were more common in Chinese Han healthy volunteers,the mutation rate was high,and some of the results were consistent with the previous researches,also there was a significant difference in the results with some other populations.

关 键 词：卡马西平 中国汉族健康受试者 基因多态性 基因型分布 

分 类 号：R97[医药卫生—药品]