生命科学研究2012，Vol.16Issue(2)：181-185,5.
VHL综合征遗传学研究
Genetic Research of von Hippel-Lindau Syndrome
摘要
Abstract
VHL syndrome (von Hippel-Lindau syndrome, VHL; MIM 193300) is an autosomal dominant inherited multisystemic tumor syndrome. The most common manifestations of VHL are retinal or the central nervous system (CNS) hemangioblastomas. Complications of CNS hemangioblastomas and renal cell carcinomas (RCC) are the leading causes of death in patients with VHL. This disease is mainly caused by mutations of the von Hipple-Lindau gene (VHL), and the cyclin D1 gene (CCND1) mutations and its protein abnormality may also cause this disorder. Now many VHL-deficient animal models are generated. Here the known genetic research advances of VHL syndrome are summarized.关键词
von Hippel-Lindau综合征/VHL基因/细胞周期素D1基因(CCNDI)/遗传学/动物模型Key words
von Hippel-Lindau syndrome/ the von Hipple-Lindau gene (VHL)/ the cyclin Dl gene (CC-ND1)/ genetics/ animal models分类
医药卫生引用本文复制引用
袁腊梅,虢毅,邓昊..VHL综合征遗传学研究[J].生命科学研究,2012,16(2):181-185,5.基金项目
国家自然科学基金资助项目(81101339) （81101339）
中南大学中央高校基础研究基金资助项目(2011JQ014) （2011JQ014）
中南大学湘雅三医院重点培育学科基金资助项目(临床检验诊断学) （临床检验诊断学）
