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与精神发育迟滞有关的IL1RAPL1基因研究进展
引用本文:薛敏,高晓彩,张富昌.与精神发育迟滞有关的IL1RAPL1基因研究进展[J].生命科学,2009(1):135-138.
作者姓名:薛敏  高晓彩  张富昌
作者单位:西北大学生命科学学院人口与健康研究所,西安710069
基金项目:国家自然科学基金项目(30771182,30470577);陕西省自然科学基金项目(2005C115).
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。

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

Research progress on mental retardation related gene IL1RAPL1
XUE Min,GAO Xiao-cai,ZHANG Fu-chang.Research progress on mental retardation related gene IL1RAPL1[J].Chinese Bulletin of Life Sciences,2009(1):135-138.
Authors:XUE Min  GAO Xiao-cai  ZHANG Fu-chang
Institution:( Institute of Population and Health, College of Life Science, Northwest University, Xi'an 710069, China)
Abstract: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.
Keywords:nonsyndromic/non-specific MR  IL1RAPL1 gene  IL-1 receptor accessory protein  cognitive function
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