【摘要】 目的 :研究胆囊收缩素受体 A基因 ( CCK- AR)上的 1个 Pst 多态性位点与精神分裂症的关系。方法 :研究对象为 77例患者及其父母组成的核心家系及另外 32例患者 ,利用 PCR-RFLP的方法对每一例样本的 CCK- AR标记等位基因的基因型进行鉴定 ,通过关联分析确定胆囊收缩素受体 A的标记等位基因与精神分裂症的关联。结果 :拟合优度 χ2 检验显示 1 0 7例患者的基因型频率符合 Hardy- Weinberg平衡。有无钟情妄想患者的标记等位基因频率有显著性差别 ,等位基因关联的相对危险度 ( OR)为 4.5 87( 95 %CI1 .931 ,1 0 .895 ) ,可归因子为 0 .30 8。有无钟情妄想的患者的基因型具有显著性差别 ,基因型关联的 OR为 5 .2 76( 95 %CI1 .1 1 ,2 5 .0 8) ,可归因子为0 .34。单体型相对风险率 ( HHRR)检测显示在有钟情妄想症状患者的核心家系传递与未传递的等位基因频率有显著性差别 ,但对于其它症状的检测则无显著性差别。结论 :CCK- AR基因与钟情妄想症状关联 ,精神分裂症是临床异质性疾病 ,CCK- AR基因与该疾病的阳性症状有关更多还原

【Abstract】 Objective:To study on association of cholecystokinin A receptor (CCK AR) gene with schizophrenia by analyzing a Pst I polymorphic site in CCK AR gene. Methods:77 patients and their parents as well as other 32 patients came from Changchun. The genotype of every marked alleles was appraised with PCR RFLP. This site was used as a genetic marker to study the association of CCK AR gene with schizophrenia. Results:The goodness of fit χ 2 test showed that genotypic frequencies were in Hardy Weinberg equilibrium among 107 unrelated individuals with schizophrenia. A significant difference in allelic frequency was found between schizophrenic patients with and without love delusion , and the odds ratio for the allelic association was 4.587 (95% CI 1.931,10.895) with an attributable fraction of 0.308. The frequency of A1 A1 and A1 A2 genotypes showed a significant excess in schizophrenic patients with love delusion as compared with those without such symptoms, and the odds ratio for the genotypic association was 5.276 (95% CI 1.11,25.08) with an attributable fraction of 0.34. The haplotype based haplotype relative risk (HHRR) test revealed a significant difference between transmitted and non transmitted alleles in nuclear families of schizophrenic patients with love delusion but not in those of schizophrenic patients without them. Conclusion:Schizophrenia is a heterogeneous disease. CCK AR gene is possibly one of predisposing gene of love delusion. CCK AR gene is associated with positive psychotic symptoms,it takes part in the onset of its illness as a minor gene.更多还原