遗传 ›› 2010, Vol. 32 ›› Issue (2): 135-140.doi: 10.3724/SP.J.1005.2010.00135

• 综述 • 上一篇    下一篇

常染色体非特异性精神发育迟滞相关基因研究进展

石张燕, 张富昌, 高晓彩   

  1. 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:2009-06-09 修回日期:2009-09-06 出版日期:2010-02-20 发布日期:2010-01-15
  • 通讯作者: 张富昌 E-mail:zhfch@nwu.edu.cn
  • 基金资助:

    国家重点基础研究发展规划(973计划)前期专项(编号:2007CB516702)和陕西省“十一五”科技计划项目(编号:2007K01-25)资助

Progresses on autosomal recessive nonsyndromic mental retardation related genes

SHI Zhang-Yan, ZHANG Fu-Chang, GAO Xiao-Cai   

  1. College of Life Science, Institute of Population and Health, Northwest University, Xi'an 710069, China
  • Received:2009-06-09 Revised:2009-09-06 Online:2010-02-20 Published:2010-01-15
  • Contact: fuchang zhang E-mail:zhfch@nwu.edu.cn

摘要:

常染色体上一些基因与神经系统的发育和功能密切相关, 突变后可导致非特异性精神发育迟滞。文章从基因定位、表达、生物学功能与突变后致病机理等方面, 对常染色体非特异性精神发育迟滞相关基因的研究现状进行了综述, 并展望了今后这一领域的研究前景。

关键词: 非特异性精神发育迟滞, 基因, 常染色体

Abstract:

Some autosomal genes are associated with development and function of nervous system. Mutations of these genes can lead to nonsyndromic mental retardation. This paper reviews recent progresses on autosomal recessive nonsyndromic mental retardation related genes, including localization, expression, biological function and pathogenesis after mutations. The prospect in this field is also discussed.

Key words: nonsyndromic mental retardation, gene, autosomal