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

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.