【摘要】 巴德-毕氏综合征(Bardet-Biedl syndrome,BBS)是一种罕见的常染色体隐性遗传病,具有高度的遗传异质性。迄今为止,已发现18个BBS基因,其突变均可导致BBS表型。已有研究发现,BBS是一种与纤毛相关的疾病。BBS基因的突变或缺陷可能影响纤毛结构或功能,从而导致BBS表型。现就主要针对纤毛的结构、形成过程进行解析,探讨纤毛缺陷和BBS基因、蛋白之间的相互关系,试图更全面地阐述BBS与纤毛缺陷之间的关系。更多还原

【Abstract】 Bardet-Biedl syndrome(BBS) is a rare autosomal recessive hereditary disease with high genetic heterogeneity. So far, 18 BBS genes have been found and mutations of these genes will cause BBS. Previous researches revealed that BBS is a cilia-related disease. Mutations of BBS genes may affect cilia structure or function, resulting in BBS phenotypes. This review mainly describes the structure and formation process of cilia and discusses the relationship between cilia defects and BBS genes to better understand the pathology of BBS.更多还原