眼-耳-脊柱综合征的遗传学研究进展  

Research progress on genetics of the oculo-ariculo-vertebral syndrome

作　　者：姜文辉[1,2,3] 王旭东[1,2,3] 

机构地区：[1]上海交通大学医学院附属第九人民医院口腔颌面外科 [2]上海市口腔医学研究所 [3]上海市口腔医学重点实验室,上海200011

出　　处：《国际口腔医学杂志》2009年第4期451-454,458,共5页International Journal of Stomatology

基　　金：上海市重点(优势)学科建设基金资助项目(Y0203);上海市自然科学基金资助项目(08JC1417800);上海交通大学"医工(理)交叉研究基金项目"(YG2007MS18)

摘　　要：眼-耳-脊柱综合征大部分是散发病例,家族性遗传病例中常染色体显性遗传趋势明显;此疾病具有明显的异质性,外显率不全和表现度不一致的特点,遗传病因的研究以分子遗传学和实验动物模型为基本手段寻找相关的致病基因和染色体。进一步确立和修正关于此疾病的最低的诊断标准并对患者合理的分类可以探究此疾病正确的遗传模式。本文将就眼-耳-脊柱综合征的遗传模式和遗传病因进行综述。Most cases of the oculo-ariculo-vertebral syndrome are sporadic and there is a strong tendency of the autosomal dominant inheritance pattern. This disease is characteristic of etiology heterogeneity, incomplete penetrance and the variable expressivity. Researches of the genetic etiology in the disease have employed molecular genetics and the animal model as the basic instruments to seek and explore the relevant pathogenic genes and chromosomes. Further studies should focus on establishing the minimum standard of the disease and classifying the patients rationally which may deduce the right genetics pattern. This article was aimed to summarize related researches of the genetic pattern and genetic etiologies of oculo-ariculo＇vertebral syndrome.

关 键 词：眼-耳-脊柱综合征 遗传学 基因 

分 类 号：R782[医药卫生—口腔医学]