国际眼科纵览 ›› 2012, Vol. 36 ›› Issue (3): 155-162.doi: 103706/ cma.j.issn.16735803201203003

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常染色体显性遗传先天性白内障相关基因的研究进展

邱靖森  张铭志   

  1. 515041 广东,汕头大学医学院附属汕头国际眼科中心
  • 收稿日期:2012-03-02 出版日期:2012-06-22 发布日期:2012-06-29
  • 通讯作者: 张铭志,Email:zmz@jsiec.org E-mail:zmz@jsiec.org

Relative genes of autosomal dominant congenital cataracts

QIU Jing-sen, ZHANG Ming-zhi   

  1. Joint Shantou International Eye Center of Shantou University Medical College, Shantou 515041, China
  • Received:2012-03-02 Online:2012-06-22 Published:2012-06-29
  • Contact: ZHANG Ming-zhi,Email:zmz@jsiec.org E-mail:zmz@jsiec.org

摘要: 先天性白内障是由于胚胎期晶状体代谢异常而导致的自身透明度下降的致盲性疾病,遗传因素与疾病的发生、发展有很大的联系。目前研究发现先天性白内障的发生至少与22个基因的变异有关,其中以常染色体显性遗传为主,涉及的基因包括晶状体蛋白基因(CRY)、缝隙连接通道蛋白基因(GJA)、膜蛋白基因(MIP)、细胞骨架蛋白基因(BFSP)和转录调节因子基因等。本文对近几年来关于常染色体显性遗传先天性白内障致病基因方面的研究进行综述。

Abstract: Congenital cataract is  developed due to the metabolic disturbance of lens in embryo, which induces the degression of the transparency of lens. Genetic factors are associated with development of this disease. Autosomal dominant congenital cataract (ADCC) is the major type in reported congenital cataract. So far, twentytwo genes associated with ADCC have been found. These genes invole CRY, GJA, MIP, BFSP, transcription factor, and so on. This paper summarizes the genetic researches on ADCC in recent years.