X连锁非特异性精神发育迟滞相关基因<EM>PAK3</EM>研究进展

高晓彩，奚耕思，张富昌

doi:10.1360/yc-007-0523

遗传 >

2007 , Vol. 29 >Issue 5: 523 - 527

DOI: https://doi.org/10.1360/yc-007-0523

综述

X连锁非特异性精神发育迟滞相关基因PAK3研究进展

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1. 陕西师范大学生命科学学院, 西安 710062;
2. 西北大学生命科学学院人口与健康研究所, 西安 710069

收稿日期: 2006-08-30

修回日期: 2006-11-12

网络出版日期: 2007-05-08

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Research progress on nonsyndromic X-linked mental retardation related gene PAK3

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1. College of Life Science, Shaanxi Normal University, Xi’an 710062, China;
2. Institute of Population and Health, College of Life Science, Northwest University, Xi’an 710069, China

Received date: 2006-08-30

Revised date: 2006-11-12

Online published: 2007-05-08

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摘要

PAK3基因突变会导致非特异性精神发育迟滞, 因而与人类一般和特殊认知能力密切相关。研究该基因的生物学功能和认知功能将为临床诊断和防治由此引起的精神发育迟滞患者提供参考。文章综述了对PAK3基因产物、基因的生物学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; PAK3基因; 认知功能; Rho GTP酶信号通路

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高晓彩，奚耕思，张富昌 . X连锁非特异性精神发育迟滞相关基因PAK3研究进展[J]. 遗传, 2007 , 29(5) : 523 -527 . DOI: 10.1360/yc-007-0523

Abstract

Mutations of the gene coding for PAK3 (p21-activated kinase 3) are associated with nonsyndromic X-linked mental retardation (MRX). It may be associated with generalized or specific cognitive ability. Studying the biological and cognitive function of PAK3 is important for MR diagnosis and prevention. This paper reviews the progress on PAK3 including its gene product, biological and cognitive function. The future directions on the study of PAK3 are also discussed.

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