VHL基因N131Y突变导致家族性胰腺多发囊肿  

N131Y mutation of VHL gene causes familial pancreatic multiple cysts

作　　者：熊刚[1,2] 王金明 魏晓明 张悦 余小舫[1,2] 

机构地区：[1]暨南大学第二临床医学院 [2]深圳市人民医院肝胆胰外科,深圳518020 [3]深圳华大基因研究院

出　　处：《中华普通外科学文献（电子版）》2012年第6期14-17,共4页Chinese Archives of General Surgery(Electronic Edition)

基　　金：深圳市科技局计划项目

摘　　要：目的探讨1个单纯表现胰腺多发囊肿的Von Hippel-Lindau(VHL)综合征家系的VHL基因变异情况。方法调查1个VHL病家系临床资料,绘制树状图;抽取该家系3位成员外周血,提取基因组DNA,应用聚合酶链式反应(PCR)以及实时定量PCR对VHL基因进行点突变以及基因缺失进行筛查。结果该家系中仅先证者和其母亲表现为胰腺多发囊肿,且基因检测结果显示先证者和其母亲均存在VHL基因编码区第391位核苷酸A突变为T,导致第131号编码氨基酸由天冬酰胺变成了酪氨酸,为VHL基因未曾报道过的突变位点;而其父亲均无异常表现。结论 VHL综合征中,VHL基因2号外显子发生该位点突变,则仅表现为胰腺多发囊肿;对于单纯表现为胰腺多发囊肿的患者,尤其是青年或无胰腺疾病家族史者需考虑VHL综合征的可能。Objective To discuss the Von Hippel-Lindau （VHL） gene variation in VHL syndrome family with simply manifestations of pancreatic cyst development. Methods Clinical data of a VHL Syndrome family were investigated with a tree diagram. Peripheral blood of 3 family members were extractd to obtain point mutations and gene deletion screening of VHL gene by polymerase chain reaction （PCR） and real-time quantitative PCR. Results The proband of the pedigree and her mother only showed pancreatic cyst development. Genetic testing results showed that the proband and her mother had a point mutation c.391A 〉 T that resulted in an asparagine -to-tyrosine （p.Asnl31Tyr） modification on VHL gene, which had not been previously reported. The proband＇ s father had no clinical feature of VHL syndrome. Conclusions People with point mutation on the exon 2 of VHL gene only have pancreatic cyst. Patients, especially young people, diagnosed of simple manifestations of pancreatic cyst, with or without having a pancreatic disease family history, should be considered as the VHL syndrome.

关 键 词：胰腺囊肿 VHL综合征 VHL基因 基因突变 

分 类 号：R657.52[医药卫生—外科学]