VHL综合征遗传学研究

被引：8

作者：

袁腊梅 ^{[1
]}

虢毅 ^{[2
]}

邓昊 ^{[1
]}

机构：

[1] 中南大学湘雅三医院医学实验中心

[2] 中南大学湘雅医学院医药信息系

来源：

生命科学研究 | 2012年 / 16卷 / 02期

关键词：

vonHippel-Lindau综合征; VHL基因; 细胞周期素D1基因(CCND1); 遗传学; 动物模型;

D O I：

10.16605/j.cnki.1007-7847.2012.02.014

中图分类号：

R730.4 [肿瘤诊断学];

学科分类号：

100214 ;

摘要：

VHL综合征(von Hippel-Lindau syndrome,VHL;MIM 193300)是一种常染色体显性遗传的多系统肿瘤综合征,最常见临床表现是视网膜或中枢神经系统(central nervous system,CNS)血管母细胞瘤.CNS血管母细胞瘤和肾细胞癌(renal cell carcinoma,RCC)的并发症是VHL患者最主要的死因.VHL综合征主要因VHL基因(the vonHipple-Lindau gene,VHL)突变所致,细胞周期素D1基因(the cyclin D1 gene,CCND1)突变和蛋白异常也可能参与其发生.目前已建立了多个VHL基因缺陷动物模型.在此就VHL综合征的遗传学研究进展作一概述.

引用

页码：181 / 185

页数：5

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