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与精神发育迟滞有关的IL1RAPL1基因研究进展

Research progress on mental retardation related gene IL1RAPL1
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摘要 IL1RAPL1基因缺失、倒置以及突变会导致非特异性精神发育迟滞,因而与人类认知能力密切相关。研究该基因的生物学功能与认知功能将为临床诊断和防治精神发育迟滞提供参考。本文综述了IL1RAPL1基因产物、基因的生理功能与认知功能的研究现状,并对今后的进一步研究工作进行了展望。 Deletion, inversion and mutations of IL1RAPL1 （interleukin-1 receptor accessory protein -like, gene 1） are associated with non-specific mental retardation（MR）. It may be associated with human cognitive ability. Studying the biological and cognitive function of IL1RAPL1 is important for MR diagnosing and prevention. This paper reviews the progress on IL1RAPL1 including its production, biological and cognitive function. The further study work in this domain is also reviewed here.
作者 薛敏 高晓彩 张富昌
机构地区 西北大学生命科学学院人口与健康研究所
出处 《生命科学》 CSCD 北大核心 2009年第1期135-138,共4页 Chinese Bulletin of Life Sciences
基金 国家自然科学基金项目(30771182 30470577) 陕西省自然科学基金项目(2005C115)
关键词 非特异性精神发育迟滞 IL1RAPL1基因 IL1受体辅助蛋白 认知功能 nonsyndromic/non-specific MR IL1RAPL1 gene IL-1 receptor accessory protein cognitive function
分类号 Q754 [生物学—分子生物学] K749.33 [历史地理—世界史]
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生命科学
2009年 第1期

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