《生命科学》 2015, 27(5): 582-589

巴德-毕氏综合征有关致病基因与病理的研究进展

陈　晓1，2，沈　涛2*

(1 昆明理工大学医学院，昆明 650504；2 云南省第一人民医院，云南省临床基础医学研究所，云南省出生缺陷与遗传病研究重点实验室，昆明 650032)

摘　要：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。

Advance in BBS related genes and pathology

CHEN Xiao1，2， SHEN Tao2*

(1 College of Medicine， Kunming University of Science and Technology， Kunming 650504， China; 2 Provincial Key Laboratory for Birth Defects and Genetic Diseases， Institute of Basic Medical Sciences， The First People’s Hospital of Yunnan Province， Kunming 650032， China)

Abstract: 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.