豫北地区免疫性疾病患者IMPDH2(7766A>G)等基因多态性分析  

An analysis on IMPDH2(7766A>G)et al gene polymorphism in Patients with immune disease of Han in northern Henan province

作　　者：袁红昌 邓智建[1] 崔智真[1] 裴素娟[1] 吴楠[1] 卢乙众[1] YUAN Hong-chang;DENG Zhi-jian;CUI Zhi-zhen(Office of Clinical Pharmacy,the First Affiliated Hospital of Xinxiang Medical University,Xinxiang 453100,China)

机构地区：[1]新乡医学院第一附属医院临床药学办公室,河南新乡453100

出　　处：《中国实验诊断学》2021年第5期677-681,共5页Chinese Journal of Laboratory Diagnosis

基　　金：河南省医学科技攻关计划联合共建项目(No.LHGJ20190467);新乡医学院第一附属医院青年培育基金项目A类资助项目(QN-2020-A06)。

摘　　要：目的分析豫北地区免疫性疾病汉族患者IMPDH2(7766A>G)、UGT1A8*2(518C>G)、CYP3A5*3(G>A)、DHODH(19C>A)、CYP1A2(734C>A)及TPMT*3(T>C)6个基因特点。方法采用荧光原位杂交法检测患者IMPDH2(7766A>G)等6个基因型,分析不同性别基因突变率的差异性。结果IMPDH2(7766A>G)、UGT1A8*2(518C>G)、CYP3A5*3(G>A)、DHODH(19C>A)、CYP1A2(734C>A)及TPMT*3(T>C)等位基因的突变率分别为5.75%、49.56%、29.02%、25.85%、52.97%及0.44%。IMPDH2(7766A>G)等6个基因型不同性别突变率的差异均无统计学意义(均P>0.05)。结论豫北地区免疫性疾病汉族患者IMPDH2(7766A>G)等6个基因型呈多态性,服用吗替麦考酚酯等药物治疗免疫性疾病应检测基因型。Objective The distribution characteristics of IMPDH2(7766A>G),UGT1A8*2(518C>G),CYP3A5*3(G>A),DHODH(19C>A),CYP1A2(734C>A)and TPMT*3(T>C)in han patients with immune system diseases in northern Henan were analyzed.Methods Six genes,including IMPDH2(7766A>G),were detected by fluorescence in situ hybridization,and the genotype frequency and mutation rate of different genders were analyzed.Results The mutation rates of IMPDH2(7766A>G),UGT1A8*2(518C>G),CYP3A5*3(G>A),DHODH(19C>A),CYP1A2(734C>A)and TPMT*3(T>C)genes were 5.75%,49.56%,29.02%,25.85%,52.97%and 0.44%,respectively.There was no statistical difference between different genders(P>0.05).Conclusion Six genes such as IMPDH2(7766A>G)in Han patients with immune system diseases in northern Henan showed polymorphism.Genotype should be tested when taking drugs such as mycophenolate mofetil to treat immune system diseases.

关 键 词：免疫性疾病 IMPDH2(7766A>G) 吗替麦考酚酯 基因多态性 

分 类 号：R593[医药卫生—内科学]