摘要
目的:观察分析多巴胺D2受体基因TaqIA多态性、多巴胺D3受体基因Ser9Gly功能多态性、5-羟色胺2A受体基因A-1438G、T102C多态性与精神分裂症伴发迟发性运动障碍的相关性。方法:于2000-10/2001-11选择江苏省扬州五台山医院长期住院的符合CCMD-2-R精神分裂症的诊断标准的籍贯江苏省的男性精神分裂症患者94例为观察对象。患者住院时间至少8年以上。在住院期间一直服用第一代抗精神病药物。并使用异常不自主运动量表评定精神分裂症患者有无迟发性运动障碍,异常不自主运动量表总分≥3分(躯体有一处≥3分,躯体有两处或多处等于2分)即可诊断为迟发性运动障碍;量表评定先后于半年内进行3次,3次异常不自主运动量表评分均大于3分者为迟发性运动障碍患者。其中迟发性运动障碍者42例,非迟发性运动障碍者52例。常规氯仿-饱和酚白细胞提取法提取DNA,引导引物和折返引物的合成、PCR的反应条件及扩增产物经MspI限制性内切酶消化方法参考文献进行。应用聚合酶链反应-限制性片段长度多态性法分析两组多巴胺D2受体基因TaqIA多态性、多巴胺D3受体功能基因Ser9Gly多态性、5-羟色胺2A受体基因A-1438G、T102C多态性位点的等位基因频率和基因型分布。结果:94例患者的各项指标均测得,全部进入结果分析。①两组患者的多巴胺D2受体基因TaqIA多态性位点的等位基因频率和基因型分布差异无显著性意义犤(χ2=0.19,P>0.05);(χ2=0.51,P>0.05)犦。②两组患者多巴胺D3受体基因Ser9Gly多态性基因型和等位基因频率的分布差异无显著性意义犤(χ2=4.98,P=0.08);(χ2=0.84,P>0.05)犦。③5-羟色胺2A受体基因T102C多态性位点与A-1438G为完全连锁不平衡,迟发性运动障碍组与非迟发性运动障碍组的基因型总体分布的差异无显著性意义(χ2=4.37,P>0.05),等位基因频率分布的差异有显著性意义犤(等位基因A54/64.3,50/49.1),(等位基因G30/35.7,52/50.9),χ2=4.36,P<0.05犦。结论:在中国汉族男性精神分裂症患者中多巴胺D2受体基因的TaqIA多态性、多巴胺D3受体功能基因的Ser9Gly多态性可能不是影响迟发性运动障碍发生的主要危险因素。5-羟色胺2A受体基因的T102C、A-1438G多态性可能与男性精神分裂症患者的迟发性运动障碍相关联。
AIM： To observe the correlations between schizophrenia accompanied by tardive dyskinesia （TD） and the polymorphism of dopamine D2 receptor （DRD2） gene TaqI A, functional polymorphism of dopamine D3 receptor （DRD3） gene SergGly, serotonin 2A receptor （5-HT2A） gene A-1438G as well as the polymorphism of T102C. METHODS： Ninety-four male schizophrenic inpatients between October 2000 and November 2001, who were in accordance with the CCMD-2-R criteria, were selected from Wutaishan Hospital. The length of patients stay were at least 8 years, and patients had been taken the first generation antipsychotic all the time. with TD, 52 without TD entered the study. The Abnormal Involuntary Movement Scale （AIMS） was adopted to evaluate the TD symptoms of schizophrenic patients. Patients with the AIMS score≥3 （with the score of one body part greater or equal to 3 points, with the scores of two or more parts greater than 2 points） were diagnosed as TD. The evaluations were conducted by the scale for 3 times within half a year, and patients with the scores of 3 times all greater than 3 points were taken as TD patients, including 42 TD patients, and 52 non-PD patients. The DNA was obtained by routine chloroform Tris-phenol leukocyte method to induce the primer and the reentry of primer synthesis, PCR reaction as well as amplification products by MspI restriction enzyme method and referring to references. Polymerase chain reaction-restricition fragment length polymorphism （RFLPs） was used to analyze the allele frequencies and genetype distribution of DRD2 gene TaqlA polymorphism, DRD3 functional gene SergGly polymorphism, 5-HT2A gene A-1438G and T102C polymorphism. RESULTS： Ninety-four patients were involved in the analysis of results, whose indexes all determined.①There were no significant differences in the distributions of the allelic frequencies and genotypes of TaqI A polymorphism of DRD2 gene between the two groups [（X^2=19, P 〉 0.05）; （X^2=0.51, P 〉 0.05）]. ②There were no significant differences in the distributions of the allelic frequencies and genotypes of SergGly polymorphism of DRD3 gene between the two groups[ X^2=4.98, P=0.08）; X^2=0.84, P 〉 0.05）].③The T102C polymorphism was in complete linkage disequilibrium with the A-1438G polymorphism. There were no significant differences in the distribution of genotypic of the 5-HT2A gene between the groups（ X^2=4.37, P 〉 0.05）. There was significant difference in the distribution of allele frequency [allele A54/64.3,50/49.1 ], allele G 30/35.7,52/50.9 ）,X^2=4.36, P 〈 0.05]. CONCLUSION： The TaqI A polymorphism of DRD2 gene and SergGly polymorphism of DRD3 gene may not be the main risk factor for the development of TD in Chinese HaM male schizophrenia, but the T102C and A- 1438G polymorphism of 5-HT2A receptor gene may be associated with TD in chronic male schizophrenic patients.
出处
《中国临床康复》
CSCD
北大核心
2006年第34期106-108,共3页
Chinese Journal of Clinical Rehabilitation
