一个von Hippel-Lindau综合征家系的致病突变分析  

Mutation analysis for a family affected with.von Hippel-Lindau syndrome

作　　者：刘金秀 王一帆 王盛[2] 司红卫[3] 段文元 Liu Jinxiu;Wang Yi fan;Wang Sheng;Si Hongwei;Duan Wenyuan(Yinfeng Medical Laboratory,Jinan,Shandong 250000,China;People's Hospital of Linzi District,Zibo,Shandong 255400,China;Reproductive Medicine and Genetics Department,Tai'an Central Hospital,Shandong 271000,China)

机构地区：[1]济南银丰医学检验所,250000 [2]山东省淄博市临淄区人民医院,255400 [3]山东省泰安市中心医院生殖遗传科,271000

出　　处：《中华医学遗传学杂志》2018年第6期860-863,共4页Chinese Journal of Medical Genetics

基　　金：国家重点基础研究计划(2013CB945402);山东省卫计委科技计划项目(2014-36).

摘　　要：目的探讨1个表现为血管母细胞瘤的von Hippel-Lindau综合征(von Hippel-Lindau syndrome,VHL)家系VHL基因的突变情况.方法应用Sanger测序法对VHL基因进行突变检测;通过Swiss-Model三维建模分析突变pVHL的三维结构.结果先证者及家系中的其他患者的VHL基因第2外显子均存在c.426delT(p.V142fs)[NM_000551],该变异为移码突变,尚无致病性报道.Swiss-Model三维建模结果显示先证者pVHLα亚功能区完全缺失.结论c.426delT(p.V142fs)为新的突变位点,可能是该VHL家系的遗传学病因.Objective To detect VHL gene mutation in a pedigree affected with von Hippel-Lindau syndrome (VHL).Methods Clinical data of the pedigree was reviewed.Patients were subjected to Sanger sequencing to detect mutation of theVHL gene.Structure of pVHL was predicted by 3D modeling using the swiss-model.Results A novel c.426delT (p.V142fs)[NM_000551]mutation was found in exon 2 of the VHL gene.3D modeling suggested that the α-structure of pVHL is completely absent.Conclusion The novel c.426delT (p.V142fs)mutation probably underlies the VHL in this pedigree.

关 键 词：血管母细胞瘤 von Hippel-Lindau综合征 VHL基因 突变 

分 类 号：R730.2[医药卫生—肿瘤]