先天性运动型眼球震颤的分子遗传学研究进展  

Research progresses on molecular genetics of congenital motor nystagmus

作　　者：贺静[1] 朱宝生[1] 梅妍[1] 

机构地区：[1]云南省第一人民医院,昆明医学院附属昆华医院遗传诊断中心,眼科,云南省出生缺陷与遗传病研究重点实验室

出　　处：《分子诊断与治疗杂志》2011年第2期107-110,共4页Journal of Molecular Diagnostics and Therapy

基　　金：云南省应用基础研究计划项目(2010CD197);云南省高层次人才培引工程(20080C009)

摘　　要：先天性运动型眼球震颤(Congenital motor nystagmus,CMN)是一种常见的眼科遗传病,在新生儿中发生率较高,具有较高的遗传异质性,其遗传方式包括常染色体显性、常染色体隐性和X连锁等。近年来随着分子生物学技术的发展和在遗传病研究中的应用,CMN的遗传学研究取得了较多进展。目前X连锁遗传的CMN致病基因FRMD7已经被定位在Xq26-q27,但对FRMD7基因的功能和致病机制仍需进一步研究。本文对CMN的分子遗传学研究进展进行综述。Congenital motor nystagmus （CMN） is a common ophthalmic genetic disease with higher prevalence in newborn infants. CMN is genetically heterogeneous. Autosoma[ dominant, autosomal recessive and X-linked patterns of inheritance have been reported for this disease. With the development of molecular biological techniques and their applications in genetic diseases, significant progress has been made in genetics research of CMN. NoW gene encoding FERM domain-containing 7 protein （FRMDT） has been identified, and mutations in the FRMD7 gene has been recognized as an important cause of X-linked CMN. However, the precise role of FRMD7 and its involvement in the pathogenesis of CMN are not well understood. In this paper, we review molecular genetics progress on CMN.

关 键 词：先天性运动型眼球震颤 常染色体显性遗传 常染色体隐性遗传 X连锁遗传 FRMD7基因 

分 类 号：R777.46[医药卫生—眼科]