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| 1 | 中国汉族人群CYP2D6、CYP3A5、CYP1A2基因多态性研究显示文摘目的本研究旨在确定药物代谢相关酶CYP2D6、CYP3A5、CYP1A2基因的遗传多态性,研究常见的等位基因CYP2D6~*2、~*10、~*14、CYP3A5~*3、CYP1A2~*1C在汉族人群中人群中的分布。方法用荧光原位杂交(FISH)检测基因多态性。结果 CYP2D6~*10等位基因是最常见的变异(47.52%),且高于白种人(P<0.05),其次为~*1等位基因(34.65%),~*2等位基因(14.36%),~*14(3.47%)且高于既往中国的研究(P<0.05),CYP2D6~*10/~*10(IM),~*1/~*10(EM)和~*1/~*1(EM)基因型最多,占中国汉族人群的29.70%、25.75%和17.82%,没有发现~*14/~*14。CYP3A5~*3和CYP1A2~*1C分别是最常见的等位基因(72.08%和41.07%),~*3/~*3(PM)是CYP3A5最常见的基因型(57.50%),1A/1A是CYP1A2(40.48%)最常见的基因型,并且和1A/1C基因型非常接近(36.90%)。而在性别的比较中发现,男性CYP2D6以EM为主,CYP1A2以UM为主;女性CYP2D62D6以IM为主,CYP1A2以IM和PM为主,而CYP3A5的基因型性别的差异不明显。结论在中国汉族人群中CYP2D6仅发现正常代谢型(EM)和中间代谢型(IM),且以正常代谢型为主,CYP3A5以慢代谢型(PM)为主,CYP1A2以超快代谢(UM),中间代谢(IM)为主,且两个基因型接近。CYP2D6和CYP1A2代谢型存有性别差异。 | 张仁云 杨楹 邹连勇 裴可灵 景双春 王仁峰 王洪军 | 2018 | 精神医学杂志2018，31，2： | 17 |
| 2 | 药物代谢酶CYP2D6基因多态性及表型的研究进展显示文摘CYP2D6是人体内细胞色素P450家族中一种重要的药物代谢酶,其催化的药物种类广泛。多年研究表明,编码该酶的基因存在遗传多态性且该多态性与药物代谢、药物不良反应(adverse drug reaetion,ADR)的产生和致癌物的活化关系密切。随着人类基因组计划的完成和基因多态性研究计划的开展,近年来对该基因多态性及其与表型关系的研究再次成为遗传药理学研究的热点。本文从CYP2D6基因多态性及其发生机制,多态性对药物代谢、相关疾病易感性的影响等四个方面对此进行综述。 | 朱志慧 李树春 徐斯凡 | 2009 | 国际遗传学杂志2009，32，5： | 12 |
| 3 | 迟发性运动障碍易感性与基因多态性的研究进展显示文摘迟发性运动障碍(tardivedyskinesia,TD)是由于长期大量应用抗精神病药物后引起的一种特殊而持久异常的不自主运动综合征,致残率很高。TD的发病机制尽管尚不明确,但国内外的研究已经发现很多因素与TD有明显的关联,如多巴胺受体超敏假说、神经元变性假说等。 | 赵若莲 王玉明 | 2012 | 检验医学与临床2012，9，5： | 4 |
| 4 | 细胞色素氧化酶CYP1A2基因多态性与利培酮治疗汉族精神分裂症患者疗效的关联研究显示文摘目的:探对细胞色素氧化酶CYP1A2基因多态性与利培酮治疗汉族精神分裂症患者疗效的相关性。方法:给予93例汉族精神分裂症患者单一利培酮治疗12周;治疗前后阳性与阴性症状量表(PANSS)、个人和社会功能量表(PSP)及认知功能评估;采用微测序分型技术(SNa Pshot SNP)检测患者及100名汉族正常对照者(对照组)CYP1A2基因5个位点(rs2069514,rs2472304,rs35694136,rs4646427,rs762551)多态性,分析CYP1A2基因多态性与利培酮疗效的关系。结果:两组间5个多态性位点的基因型、等位基因频率及SNPs单倍型比较差异无统计学意义;5个多态性位点不同基因型患者间的临床疗效比较差异无统计学意义;多重线性回归分析发现部分多态性位点与利培酮治疗精神分裂症后阴性症状、一般病理学症状、PANSS总分、注意转移力、注意集中力的疗效有关。结论:未发现细胞色素氧化酶CYP1A2多态性是汉族精神分裂症的易感基因相关证据;CYP1A2基因多态性与利培酮治疗的疗效相关。 | 元静 卫芋君 曾雷 张艳 徐莉 周芳 冯国华 杨建中 | 2017 | 临床精神医学杂志2017，27，1： | 4 |
| 5 | 细胞色素氧化酶CYP 1A2基因多态性与物质代谢和癌症发生相关性的研究进展显示文摘细胞色素氧化酶CYP 1A2亚家族是近年来药物代谢研究领域较受关注的热点之一。该酶具有高度的个体间差异,并参与多种临床药物以及环境致癌物质的代谢,与癌症、炎症、心肌梗塞等疾病的发病易感性相关。CYP 1A2具有抗氧化作用;CYP 1A2基因多态性和表型差异的研究,可用于评价临床药物治疗效果;探针药物的应用是研究CYP 1A2活性的主要方法;人源化CYP 1A2转基因动物模型,是癌症发生研究中、新的研究手段。 | 赵旋 章国良 | 2007 | 中国临床药理学杂志2007，23，6： | 3 |
| 6 | 壮族人群少精不育患者精子CYP1A2基因多态性研究显示文摘根据世界卫生组织估计,全球有近6 000万人罹患不孕症,约占育龄人口的10%。其中近50%由男性因素所致,称为男性不育,导致男性不育的原因很多,其中相关基因的突变是一个重要的因素。大量的研究表明,人体内特别是生殖腺内的毒性物质对精子的成熟和精液的质量有很大影响,而体内很多酶与这些有毒物质的代谢有关,如细胞色素P450(Cyto-chrome P450,CYP)酶。 | 陈秉朴 黄瑞雅 韦叶生 凌雁武 解继胜 邓树嵩 | 2011 | 重庆医学2011，40，15： | 2 |
| 7 | 85例肾移植术后受者CYP2D6基因多态性及他克莫司血药浓度/剂量观察显示文摘目的观察85例肾移植术后受者CYP2D6基因单核苷酸多态性和他克莫司血药浓度/剂量比值(C/D),探讨通过检测CYP2D6基因型指导肾移植术后患者他克莫司用量的可行性。方法采用Sequenom Mass Array系统基因分型方法检测85例肾移植术后受者CYP2D6基因rs1065852位点和rs16947位点的基因型和等位基因频数,患者应用他克莫司期间监测患者他克莫司血药浓度,计算他克莫司C/D。结果 85例受者中CYP2D6基因rs1065852位点基因型为GG者27例、GA者39例、AA者16例,等位基因G、A频数分别为93(56.71%)、71(43.29%);rs16947位点基因型为GG者47例、GA者27例、AA者11例,等位基因G、A频数分别为121(71.17%)、49%(28.82%)。CYP2D6基因rs1065852位点基因型GG、GA和AA型患者他克莫司C/D值分别为104.48±57.83、143.46±77.49、124.74±80.17,GG型和GA型患者他克莫司C/D值相比,P<0.05。CYP2D6基因rs16947位点GG、GA和AA型患者他克莫司C/D值分别为159.10±121.21、128.49±81.68、108.84±70.19,P>0.05。结论 CYP2D6基因rs1065852位点单核苷酸多态性与肾移植术后受者他克莫司C/D有关。CYP2D6基因rs16947位点基因多态性与肾移植术后受者他克莫司C/D无相关性。 | 刘克锋 许海江 曹雨晴 刘宇 赵杰 | 2018 | 山东医药2018，58，19： | 1 |
| 8 | 河北汉族人群CYP1A2 C163A基因多态性研究显示文摘目的探讨河北汉族人群细胞色素P450 1A2(cytochrome P450 1A2,CYP1A2)C163A基因多态性的分布情况。方法应用聚合酶链式反应-限制性酶切片段长度多态性(PCR-RFLP)方法对210例河北汉族正常人进行CYP1A2C163A基因多态性分析。结果河北汉族人群CYP1A2C163A基因A和C等位基因的频率为:68.3%、31.7%。AA、AC、CC基因型频率分别为48.1%、40.5%、11.4%。符合Hardy-Weinberg遗传平衡定律(χ2=1.22,P>0.05),具有代表性。结论河北汉族人群CYP1A2基因存在C163A位点多态性。 | 冯晓娟 范志亮 康聚贤 豆真珍 范志刚 尹少华 | 2015 | 济宁医学院学报2015，38，2： | 0 |
| 9 | Association between monoamine oxidase A gene promoter 30 bp repeat polymorphism and tardive dyskinesia in Chinese schizophrenics显示文摘BACKGROUND: The pathophysiology of tardive dyskinesia (TD) is not yet fully understood. With the hypothesis of altered dopaminergic neurotransmission, altered activities of dopamine degrading enzymes such as monoamine oxidase A (MAOA) and their coding genes are supposed to be related to the pathophysiology of TD. OBJECTIVE: To investigate possible association between 30 bp variable number tandem repeat (VNTR) polymorphism in the promoter of MAOA gene and susceptibility, severity of neuroleptic induced TD in Chinese Han people in Guandong Province. DESIGN: Non-randomization-synchronization controlled study. SETTING: Guangdong Mental Health Institute, Guangdong Provincial People’s Hospital; Guangzhou Psychiatric Hospital; Affiliated Psychiatric Hospital of Guangzhou Municipal Bureau of Civil Administration. PARTICIPANTS: A total of 179 subjects were enrolled in the study. All subjects were sporadic and genetically unrelated Chinese schizophrenic patients who were hospitalizing in Guangzhou Psychiatric Hospital or Affiliated Psychiatric Hospital of Guangzhou Municipal Bureau of Civil Administration during January to April 2005. The diagnosis of schizophrenia was made according to the criteria of Diagnostic and Statistic Manual of Mental Disorder-the third edition-revised (DSM-Ⅲ-R). Among all patients, 88 were diagnosed as with TD and 91 without TD according to the research diagnostic criteria described by Schooler-Kane. Informed consent was obtained from all subjects or their relatives. METHODS: ① TD severity was assessed with the AIMS which was a 5-degree rating scale from 0 to 4 (corresponding to none, minimal, mild, moderate and severe, respectively). The study was approved by the Ethics Committees of the two hospitals and informed consent was obtained from all subjects or their relatives. ② The polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE) techniques were used to detect MAOA gene 30 bp VNTR polymorphism in schizophrenic patients with and without TD. ③ The differences in genotype and allele frequencies between two groups were compared with chi-square test and severity of TD rated by Abnormal Involuntary Movement Scale (AIMS) among TD patients with different genotypes or alleles were compared with one way ANOVA test or independent-samples t test. MAIN OUTCOME MEASURES: Demographic and clinical variables including sex, age, duration of illness, cumulative exposure to neuroleptic drugs, times of hospitalization, of all patients; AIMS scores in TD patients; MAOA gene polymorphic allelic and genotypic frequencies in all subjects. RESULTS: All 179 subjects were involved in the final analysis. No one was dropped out in this study.Only 3- and 4-fold repeat alleles were observed in all subjects. Data was stratified and analyzed by gender because MAOA gene was located on the X chromosome. No significant differences were found in genotypic (χ2=2.437, P > 0.05) nor allelic (χ2=2.233, P > 0.05) frequencies of MAOA gene between patients with TD and without TD in female subjects, and no significant differences in allelic frequencies between male TD and non-TD patients (χ2 =1.750, P > 0.05). And there were no significant differences in mean AIMS scores among female TD patients with different MAOA genotypes (F =1.190, P > 0.05) and between male TD patients carrying different alleles (t =0.378, P > 0.05). CONCLUSION: The results do not support any associations between MAOA gene 30 bp VNTR polymorphism and susceptibility nor severity of TD in schizophrenia in Chinese Han people. | Changhe Fan Lihua Li Yan Fu Hehuang Deng Xiangjiao Liao Youcai Zhou | 2006 | Neural Regeneration Research2006，1，5： | 0 |
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