VHL基因突变与红细胞增多症的研究进展  

Research progress of VHL gene mutation and polycythemia

作　　者：唐源 蔡善君 Tang Yuan;Cai Shanjun(Graduate School of Zunyi Medical University,Zunyi Guizhou 563099,China;Zunyi Medical University,Zunyi Guizhou 563099,China)

机构地区：[1]遵义医科大学研究生院,贵州遵义563099 [2]遵义医科大学,贵州遵义563099

出　　处：《遵义医科大学学报》2021年第2期252-254,共3页Journal of Zunyi Medical University

基　　金：国家自然科学基金资助项目(NO:31871261)。

摘　　要：VHL(Von Hippel-Lindau)基因突变可改变VHL蛋白结构功能,调控细胞的氧感通路及影响缺氧诱导因子HIF泛素化,激活血管生成因子和促红细胞生成素的转录,进一步引起红细胞增多症的发生。近年来,VHL基因突变导致红细胞增多症的发生引起人们的关注。本文就VHL基因的突变与红细胞增多症的发生机制进行综述。VHL(von Hippel Lindau)gene mutation can change the structure and function of VHL protein,regulate the oxygen sensing pathway of cells,affect the ubiquitination of HIF,activate the transcription of angiogenic factor and erythropoietin,and further cause the occurrence of polycythemia.In recent years,the occurrence of polycythemia caused by VHL gene mutation has attracted people's attention.In this paper,the researches of VHL gene mutation and the pathogenesis of polycythemia were reviewed.

关 键 词：VHL基因 红细胞增多症 

分 类 号：R540.45[医药卫生—心血管疾病]