先天性眼球震颤遗传学研究进展  

Genetic Advances of the Congenital Nystagmus

作　　者：谷峰[1] 王琳 马旭[1] 

机构地区：[1]中国协和医科大学,北京100730 [2]国家人口与计划生育委员会科学技术研究所,北京100081

出　　处：《国际遗传学杂志》2006年第1期55-58,共4页International Journal of Genetics

基　　金：国家973项目(No.2001CB5103);国家遗传资源重点项目(No.2004DKA30490)

摘　　要：先天性眼球震颤是一种不伴有其他明显眼病的眼科遗传病,该疾病的发生有很高的遗传异质性,已经发现多个致病基因座,Xq26-q27、Xp11.4-p11.3、13q31-q33和6p12,可能还有新的基因座没有被发现,已经研究的基因座致病基因候选区域很大,在该区域的候选基因太多,所以必须精细定位后,才有可能完成致病基因的克隆工作。现对先天性眼球震颤遗传学的研究进展进行了综述。Congenital nystagmus is an ophthalmic genetic disease with no association with other disease. So far, several loci（Xq26-q27,Xp11 .g-p11.3,13q31-q33 and 6p12）, but not all, have been showed to be linked with the disease, which revealed its heterogeneity. While the minimal critical region was reported for it harbored too more candidate genes, fine mapping was essential for the screening of the responsible gene. In this paper, the genetic progress of the congenital nystagmus has been reviewed.

关 键 词：先天性眼球震颤 基因定位 基因克隆 

分 类 号：R777.46[医药卫生—眼科] R711.75[医药卫生—临床医学]