【作者】 陈冬梅；

【导师】 邢连喜； 张富昌；

【作者基本信息】 西北大学 ， 生态学， 2010， 硕士

【摘要】 认知能力是人类在进化过程中形成的适应和改造环境的基本能力,它是人脑加工储存、提取和运用信息的能力。人类认知能力中的生物性成份是受多基因影响的,研究证明人类认知能力的遗传度为40%-80%。因此,开展影响神经系统发育和中枢神经系统活动的有关基因多态性与认知能力关系的研究对于寻找影响人类认知能力的基因有重要的意义。神经限制性沉默因子(NRSF)因在神经系统中调控很多神经特异性基因的表达,受到国内外神经生物学家的广泛关注。目前,有关NRSF基因的报道也多集中在它对神经系统相关基因表达的调控机制方面。近年来,随着对NRSF研究的深入,发现它与人类的认知能力有相关性,且有研究表明,NRSF与受其调控的基因在对人类认知能力的影响上有联合作用。突触体相关蛋白(SNAP-25)基因是受NRSF调控的基因之一,研究表明,SNAP-25与注意缺陷多动症、精神分裂症和癫痫病有相关性。目前虽然可以查阅到NRSF和SNAP-25与人类认知能力关系的报道,但有关的报道均为欧洲人群,尚未见到NRSF和SNAP-25基因多态性与年轻健康中国汉族人群认知能力关系的报道,并且也未见到NRSF和SNAP-25基因的联合作用与人类认知能力关系的报道。为了研究NRSF和SNAP-25基因多态性与年轻健康中国汉族人群认知能力的关系,本研究在NRSF上选择了VNTR和rs2228991两个多态位点,在SNAP-25选择了rs362584和rs3746544两个多态位点。单位点分析的结果表明,VNTR与人类认知能力的阅读工作记忆的反应时(p=0.01)和长时记忆的数字再认能力(p=0.01)有相关性,SNAP-25与言语认知能力的语音流畅性(p=0.02)和句图匹配的反应时(p=0.02)有相关性；两基因联合作用与认知能力的相关性分析结果显示,NRSF*SNAP-25基因与数字工作记忆的反应时、长时记忆的数字再认能力、言语认知能力的语音流畅性和句图匹配的反应时有相关性。本研究的结果提示,NRSF和SNAP-25基因与年轻健康中国汉族人群认知能力具有显著相关性,NRSF和SNAP-25基因联合作用对年轻健康中国汉族人群认知能力有影响。但是,这一初步结论尚需做进一步的研究和探讨。更多还原

【Abstract】 Cognitive ability is a basic capability of human to adapt and modify the environment formed in the course of human evolution, associating with the ability of human brain to process, storage and retrieve information. Human cognitive ability is affected by multi-gene. Studies have shown that the heritability of human cognitive abilities is 40%-80%. Therefore, it is very important to explore the relationship between genes and cognitive ability and to find genes that affect cognitive abilities through studying the relationship of polymorphism and cognitive ability.Neural-Restrictive Silencer Factor (NRSF) attracted many neurobiologists’attention both at home and abroad, due to its regulating many neural-specific genes’express in the nervous system. So far, reports about NRSF gene has been concentrating on its regulatory mechanism of gene express in nervous system. Recent studies showed that NRSF was correlated with the human cognitive ability, and forthermore NRSF had a combined effect on human cognitive ability with genes which were regulated by it. Synaptosomal-Associated Protein gene is one of the genes regulated by NRSF, which was proved to be associated with attention deficit hyperactivity disorder, schizophrenia and epilepsy. Until now, although we can find the articles about the relationship between NRSF, SNAP-25 and human cognitive abilities, the relative reports are all about the European population. Neither the association between NRSF and SNAP-25 gene polymorphisms and cognitive ability in healthy Chinese Han population, nor the association between combined effect of NRSF and SNAP-25 gene and cognitive ability in human cognitive ability has been reported.In order to study the relationship between NRSF and SNAP-25 gene polymorphism and cognitive ability in young healthy Chinese Han population, VNTR and rs2228991 polymorphic locus in NRSF gene, rs362584 and rs3746544 polymorphic locus in SNAP-25 gene were selected. Single locus analysis showed that VNTR of NRSF was significantly associated with react time of reading working memory (p=0.01) and digital recognition of long-term memory (p=0.01), and SNAP-25 was significantly associated with phonological fluency(p=0.02) and react time of sentence-charting matching (p=0.02). Combined analysis indicated that NRSF* SNAP-25 was significantly associated with react time of digital working memory, digital recognition of long-term memory, phonological fluency and react time of sentence-charting matching.The above results revealed a positive association between the genetic variants of NRSF and SNAP-25 and cognitive ability in the young healthy Chinese Han population, and NRSF and SNAP-25 had a combine effect on the cognitive ability of young healthy Chinese Han population. However, this preliminary conclusion still needs further research and discussion.更多还原