遗传 ›› 2002, Vol. 24 ›› Issue (3): 356-358.

• 论文 • 上一篇    下一篇

视网膜色素变性的分子遗传学研究进展

滕云;王慧 TENG Yun;WANG Hui   

  1. 华中科技大学同济医学院医学遗传研究室,湖北武汉 430030 Department of Medical Genetics,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China
  • 收稿日期:1900-01-01 出版日期:2002-06-10 发布日期:2002-06-10

A New Study Progress of Molecular Genetics in Autosomal Dominant Retinitis Pigmentosa

  • Received:1900-01-01 Online:2002-06-10 Published:2002-06-10

摘要: 视网膜色素变性(RP)是常见的遗传性眼病,具有高度的遗传异质性,患者常有进行性夜盲和视野缺损。对于常染色体显性遗传RP已经发现有12个基因座与之有关,其中6个致病基因已被克隆,对于这些致病基因的结构、突变及其功能目前已有了新的研究进展。
Abstract:Retinitis pigmentosa (RP) describes a genetically and clinically heterogeneous group of disorders that are characterized by gradual degeneration of photoreceptor cells.Common clinical features include a progressive loss of night vision,leading to night blindness and peripheral-visual-field loss.At least 12 loci have been mapped to chromosomes,and mutations in an ever increasing number of genes have been found to cause autosomal dominant retinitis pigmentosa (ADRP).Six of the 12 genes known to cause ADRP have been cloned.New progress has been made on the studies of structure,mutation and function of these genes.

关键词: 突变
Key words,
retinitis pigmentosa, 基因, 视网膜色素变性, 常染色体显性