豫北地区汉族人群MTHFR(677C>T)等基因分析及临床意义  

Analysis on MTHFR(677C>T)et al gene polymorphism in Han population in northern Henan province

作　　者：袁红昌 崔智真[1] 惠红岩[1] 郗玉玲[1] 平贯芳 邓智建[1] YUAN Hong-Chang;CUI Zhi-Zhen;HUI Hong-Yan;XI Yu-Ling;PING Guan-Fang;DENG Zhi-Jian(Pharmaceutical Department,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药学部,新乡453100

出　　处：《中国免疫学杂志》2020年第14期1751-1755,共5页Chinese Journal of Immunology

基　　金：河南省医学科技攻关计划联合共建项目(No.LHGJ20190467)。

摘　　要：目的:调查豫北地区患有肿瘤的汉族人群中MTHFR(677C>T)、GSTP1(313A>G)、XRCC1(1196T>C)、DPYD*2A(476002G>A)、DPYD*13(1679T>G)、DPYD(2846T>A)、UGT1A1*6(211G>A)及UGT1A1*28(TA6/7)8个基因的分布特点。方法:采用荧光原位杂交法检测患者MTHFR(677C>T)等8个基因,统计基因分布频率,并分析其临床意义。结果:MTHFR(677C>T)、GSTP1(313A>G)、XRCC1(1196T>C)、DPYD*2A(476002G>A)、DPYD*13(1679T>G)、DPYD(2846T>A)、UGT1A1*6(211G>A)及UGT1A1*28(TA6/7)等位基因的突变频率分别为68.10%、22.33%、70.11%、0.17%、0.18%、0.17%、27.39%、6.52%。除UGT1A1*6(G>A)之外的基因型在不同性别之间差异无统计学意义(P>0.05)。各基因型分布符合Hardy-Weinberg平衡定律(P>0.05)。结论:豫北地区患有肿瘤的汉族人群中MTHFR(677C>T)等8个基因存在多态性,建议患者在使用肿瘤治疗药物时应监测基因,并根据监测结果制订个体化治疗方案。Objective:To investigate the distribution characteristics and clinical significance of MTHFR(677C>T),GSTP1(313A>G),XRCC1(1196T>C),DPYD*2A(476002G>A),DPYD*13(1679T>G),DPYD(2846T>A),UGT1A1*6(211G>A)and UGT1A1*28(TA6/7)of Han people with tumor diseases in northern Henan province.Methods:Eight genes,including MTHFR(677C>T),were detected by fluorescence in situ hybridization,the frequency and allele frequency of the gene were analyzed.Results:The mutation rates of MTHFR(677C>T),GSTP1(313A>G),XRCC1(1196T>C),DPYD*2A(476002G>A),DPYD*13(1679T>G),DPYD(2846T>A),UGT1A1*6(211G>A)and UGT1A1*28(TA6/7)genes were 68.10%,22.33%,70.11%,0.17%,0.18%,0.17%,27.39%and 6.52%,respectively.There was no statistical difference between different genders except UGT1A1*6(G>A)(P>0.05).The distribution of genotypes was consistent with the Hardy-Weinberg equilibrium law(P>0.05).Conclusion:Eight genes,including MTHFR(677C>T),in Han population with tumor disease in northern Henan province are polymorphic,and individual drug administration should be adopted when patients take drugs for tumor disease.

关 键 词：MTHFR(677C>T) 甲氨蝶呤 基因监测 个体化治疗方案 

分 类 号：R394.5[医药卫生—医学遗传学]