脑源性神经营养因子基因及精神分裂症质量及数量性状关联.docVIP

脑源性神经营养因子基因及精神分裂症质量及数量性状关联 　 作者：何小林 赵靖平 刘涛 张向晖 赵爱玲 【关键词】 脑源性神经营养因子基因；多态性；精神分裂症；质量性状；数量性状 　　【摘要】 目的 探讨脑源性神经营养因子基因C270T多态性与精神分裂症疾病表型的质量和数量性状的关系。 方法 对194例精神分裂症患者（研究组）及187例正常人（对照组）应用聚合酶链反应、非变性聚丙烯酰胺凝胶电泳结合银染技术检测脑源性神经营养因子基因C270T多态性；采用阳性与阴性症状量表评定精神分裂症疾病表型的数量性状。用χ2检验和单因素方差分析脑源性神经营养因子基因与精神分裂症疾病表型的质量和数量性状的关系。 结果 两组间BDNF基因的基因型及等位基因的频率分布差异有显著性(Plt;0.05)；研究组脑源性神经营养因子基因3种基因型间阳性与阴性症状量表总分及分量表分差异无显著性(P＞0.05)。 结论 脑源性神经营养因子基因C270T多态性与精神分裂症相关,与精神分裂症疾病表型的质量性状可能无关联,与精神分裂症疾病表型中的”思维障碍”和”反应缺乏”的数量性状可能存在关联。 　　【关键词】 脑源性神经营养因子基因；多态性；精神分裂症；质量性状；数量性状 　　Relationship between polymorphism in the brainderived neurotrophic factor gene and qualitative or quantitative characters of schizophrenic phenotype 　　【Abstract】 Objective To explore relationships between the C270T polymorphism in the brainderived neurotrophic factor (BDNF) gene and qualitative or quantitative characters of schizophrenic phenotype. Methods The C270T polymorphism in the BDNF of 194 patients and 187 normal controls were examined with polymerase chain reaction(PCR), denaturing polyacrylamide gel electrophoresis and silver staining; quantitative characters of schizophrenic phenotype were assessed with the Positive and Negative Symptom Scale (PANSS). The relationships were analyzed with the χ2 test and Single Factor Analysis of Variance. Results There were significant differences in the genotypes and the frequencies of alleles of the BDNF gene between the 2 groups(Plt;0.05); there was no significant difference in the total score and subscale scores of the PANSS among the three genotypes of BDNF gene (P＞0.05). Conclusion C270T polymorphism in the BDNF gene is associated with schizophrenia , might not be associated with quantitative or qualitative characters of schizophrenic phenotype and may be associated with quantitative characters such as thought disorder and reaction deficit. 　　【Keywords】 BDNF gene；polymorphism；schizophrenia；qualitative character；quantitative character 　　精神分裂症是一种常见的多基因遗传病［1］，其表型的变异分布是连续的，称之为数量性状（quantitative charact