国际眼科纵览 ›› 2014, Vol. 38 ›› Issue (3): 156-159.doi: 10.3760/ cma. j. issn.1673-5803.2014.03.003

• 综述 • 上一篇    下一篇

里昂化作用与眼部疾病

赵颖熙, 陈向武   

  1. 322000  浙江省义乌市, 浙江大学医学院附属义乌医院眼科
  • 收稿日期:2013-12-11 出版日期:2014-06-22 发布日期:2014-06-23
  • 通讯作者: 陈向武,Email:chenxiangwu1797@gmail.com

Lyonization and eye diseases

 ZHAO  Ying-Xi, CHEN  Xiang-Wu   

  1. Department of Ophthalmology, Yiwu Hospital, Zhejiang University, Yiwu Zhejiang 322000, China
  • Received:2013-12-11 Online:2014-06-22 Published:2014-06-23
  • Contact: CHEN Xiang-wu, Email:chenxiangwu1797@gmail.com

摘要: 里昂化作用(Lyonization)又称X染色体失活,是指雌性哺乳类动物细胞中两条X染色体的其中之一失去活性的现象。一些眼部X连锁隐性遗传病如先天性无脉络膜症、视网膜色素变性、X\|连锁眼部白化病等都有里昂化作用的参与。通过了解里昂化作用将有助于眼部X连锁隐性遗传病的诊断及治疗。(国际眼科纵览, 2014, 38: 156-159)

Abstract: Lyonization, also known as X chromosome inactivation, is a process that one of the two X chromosomes is inactivated in every somatic diploid cell during embryonic development in female mammals. Lyonization is involved in several X\|linked ocular diseases, such as choroideremia, X\|linked retinitis pigmentosa, and X\|linked ocular albinism. Insights of Lyonization may help in diagnosis and cure of ocular X\|linked recessive genetic diseases. (Int Rev Ophthalmol, 2014, 38: 156-159)