《生命科学》 2009, 21(1): 135-138

与精神发育迟滞有关的IL1RAPL1基因研究进展

薛　敏，高晓彩*，张富昌

西北大学生命科学学院人口与健康研究所， 西安710069

摘　要：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

Institute of Population and Health， College of Life Science， Northwest University， Xi抋n 710069， China

Abstract: Abstract: Deletion，inversion and mutations of IL1RAPL1 (interleukin-1 receptor accessory protein 杔ike， 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.
Key words: nonsyndromic/non-specific MR; IL1RAPL1 gene; IL-1 receptor accessory protein; cognitive function