中国临床药理学与治疗学2026，Vol.31Issue(3)：344-351,8.DOI:10.12092/j.issn.1009-2501.2026.03.006
基于MALDI-TOF-MS技术检测36例患者神经与精神用药基因多态性与精准用药分析
Precision medication analysis based on the detection of neurological and psychotropic drug gene polymorphisms in 36 patients using MAL-DI-TOF-MS technology
摘要
Abstract
AIM:To detect and analyze the poly-morphism of related drug genes in patients treated with neurological and psychiatric drugs,and to ex-plore the clinical value of gene detection for neuro-logical and psychiatric drugs,so as to provide basis for precision drug use.METHODS:Stroma-assisted laser desorption ionization time-of-flight mass spec-trometry(MALDI-TOF-MS)was employed to detect genes related to neurological and psychiatric drugs in 36 patients admitted to the department of psy-chology and sleep medicine at the second affiliated hospital of Anhui medical university between Febru-ary 2024 and September 2024.The polymorphisms of drug-metabolizing enzyme genes(CYP2D6 and CYP2C19)and target genes(FKBP5,SACM1L,MDGA2,HTR1A,and HTR2A)were analyzed.Based on the results of gene polymorphism,precision drug use analysis was conducted.RESULTS:Among the 36 patients,the mutation frequency of the CYP2D6*4 gene was the lowest at 0.00%,while that of the CYP2C19*2 gene was the highest at 44.4%.Regarding drug target gene polymorphisms,the AC genotype of MDGA2 had the highest frequency at 38.3%,the GG genotype of SACM1L was the most frequent at 63.8%,and the GG genotype of FKBP5 was prevalent at 61.1%.Additionally,the CG and GG genotypes of HTR1A both had the highest fre-quencies at 47.2%,and the GG genotype of HTR2A was the most common at 55.6%.For patients with the CYP2D6*10/*10 and CYP2C19*2/*2 genotypes,drug metabolism and clearance may be reduced.It is recommended to lower the dose and regularly monitor blood drug concentration in these patients.CONCLUSION:The polymorphism of genes related to neurological and psychotropic drugs is closely linked to patients'responses to these medications.Providing precision medication guidance based on genetic testing results for these drugs holds signifi-cant clinical value.关键词
基质辅助激光解吸电离飞行时间质谱/基因多态性/精准用药/神经与精神药物/基因检测Key words
matrix-assisted laser desorption ion-ization time-of-flight mass spectrometry/gene poly-morphism/precision medicine/neurological and psychotropic drugs/genetic testing分类
医药卫生引用本文复制引用
陈亚楠,杨雅茹,蒋琛,姚凤,王珂,周仁鹏,赵英杰,胡伟..基于MALDI-TOF-MS技术检测36例患者神经与精神用药基因多态性与精准用药分析[J].中国临床药理学与治疗学,2026,31(3):344-351,8.基金项目
重大新药创制科技重大专项(2020ZX09201014) （2020ZX09201014）
