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缩胆囊素A受体基因多态性在精神分裂症家系中的传递不平衡检验 被引量:2

Cholecystokinin-A receptor gene polymorphism and schizophrenia: a transmission disequilibrium test
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摘要 目的 探讨缩胆囊素A(CCK A)受体基因在精神分裂症核心家系中是否存在传递不平衡 ,并研究基因型与临床症状之间的关系。方法 收集符合国际疾病分类第 10版的 90例精神分裂症患者的核心家系 ,其中父母组 180人 ,患者组 90例 ,非患病同胞组 4 4人 ,散发精神分裂症患者组 2 9例。采用聚合酶链反应技术、限制性片段长度多态性的方法进行研究。用阳性和阴性症状量表(PANSS)评定患者组。结果  (1)CCK A受体基因在患者组、非患病同胞组均无显著性传递不平衡 ,χ2值分别为 0 6 9和 0 71,P >0 0 5 ;(2 )按性别分组后 ,不同基因型患者的阴性症状严重程度的差异有显著性或非常显著性。在女性患者中 ,A1A2基因型患者的PANSS阴性因子总分秩次 (5 0 90 )高于A2A2基因型患者 (30 6 0 ) ,P =0 0 0 0 ;在男性患者中 ,A1A2基因型患者的PANSS阴性因子的前两项 (N1,N2 )评分秩次 (12 5 9,14 35 )与A2A2基因型患者 (2 4 4 5 ,2 2 95 )的差异有非常显著性 (P =0 0 1)。结论CCK A受体基因不能作为精神分裂症的功能基因 ,但其影响患者阴性症状的严重程度。 Objective To test whether the polymorphisms of cholecystokinin A (CCK A) receptor gene were related to schizophrenia in schizophrenic family Methods The alleles and genotypes of CCK A receptor gene were examined with polymerase chain reaction restriction fragment length polymorphism in 90 schizophrenic families The probands met with the tenth revision of International Classification of Diseases and Related Health Problems criteria for schizophrenia and were assessed with the Positive and Negative Symptoms Scale (PANSS) Results (1) Transmission disequilibrium test (TDT) showed there were no significant transmission disequilibrium in both patients and their non affected siblings (χ 2=0 69 and 0 71; P >0 05) (2) When female and male patients were studied separately, there were significantly different negative symptoms scores between genotypes of CCK A receptor gene In the rank sum test, the total score of PANSS negative factor in female patients with genotype of A1A2 was significantly higher than those with A2A2 ( P =0 000) The score of first two negative factors in male patients with genotype of A1A2 was significantly lower than those with A2A2 ( P =0 01) Conclusions The CCK A receptor gene may be not as the functional gene of schizophrenia, but may influence the severity of negative symptom of the disease
出处 《中华精神科杂志》 CAS CSCD 北大核心 2002年第2期73-76,共4页 Chinese Journal of Psychiatry
基金 国家 8 63计划基金资助项目 (Z19 0 1 0 2 0 5 )
关键词 精神分裂症 受体 缩胆囊素 基因多态性 限制性片段长度 传递不平衡检验 Schizophrenia Receptors,cholecystokinin Genes Polymorphism,restriction fragment length Transmission/disequilibrium test
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