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学科主题临床医学
Higher Prevalence of Novel Mutations in VHL Gene in Chinese Von Hippel-Lindau Disease Patients
Wang, Xi; Zhang, Ning; Ning, Xianghui; Li, Teng; Wu, Pengjie; Peng, Shuanghe; Fan, Yu; Bu, Dingfang; Gong, Kan1
刊名UROLOGY
2014-03-01
DOI10.1016/j.urology.2013.09.069
83期:3
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Urology & Nephrology
研究领域[WOS]Urology & Nephrology
关键词[WOS]GERMLINE MUTATIONS ; FAMILIES ; FEATURES ; HISTORY
英文摘要

OBJECTIVE To observe the clinical and molecular characteristics in Chinese Von Hippel-Lindau (VHL) disease patients.

MATERIALS AND METHODS Using polymerase chain reaction (PCR)-direct sequencing and universal primer quantitative fluorescent multiplex-PCR, we examined mutations in VHL gene in 19 VHL disease families recruited from the Department of Urology, Peking University First Hospital in the period from 2009 to 2012.

RESULTS Of the 19 VHL disease families, VHL disease type I was identified in 14 families, type IIA in 1 family, and type IIB in 4 families. Mutation detection found missense point mutations in 7 families, nonsense point mutations in 3 families, small indels in 6 families, and large deletions in 3 families. Novel mutations were detected in 9 families (47.4%), in which 6 had no family history; previously reported mutations were found in 10 families, in which 3 had no family history.

CONCLUSION The prevalence of novel mutations without family history was higher in this group of patients, presumably demonstrating the higher prevalence of de novo mutations in VHL gene in Chinese VHL disease patients. UROLOGY 83: 675.e1-675.e6, 2014. (C) 2014 Elsevier Inc.

语种英语
WOS记录号WOS:000332411200044
项目编号30872560 ; 81172418 ; NCET-10-0190
资助机构National Natural Science Foundation of China ; Program for New Century Excellent Talents in Universities
引用统计
被引频次:1[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/63057
专题北京大学第一临床医学院_泌尿外科
作者单位1.Peking Univ, Natl Urol Canc Ctr, Inst Urol, Dept Urol,Hosp 1, Beijing 100034, Peoples R China
2.Capital Med Univ, Beijing Chaoyang Hosp, Dept Urol, Beijing, Peoples R China
3.Peking Univ, Hosp 1, Dept Cent Lab, Beijing 100034, Peoples R China
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GB/T 7714
Wang, Xi,Zhang, Ning,Ning, Xianghui,et al. Higher Prevalence of Novel Mutations in VHL Gene in Chinese Von Hippel-Lindau Disease Patients[J]. UROLOGY,2014,83(3).
APA Wang, Xi.,Zhang, Ning.,Ning, Xianghui.,Li, Teng.,Wu, Pengjie.,...&Gong, Kan.(2014).Higher Prevalence of Novel Mutations in VHL Gene in Chinese Von Hippel-Lindau Disease Patients.UROLOGY,83(3).
MLA Wang, Xi,et al."Higher Prevalence of Novel Mutations in VHL Gene in Chinese Von Hippel-Lindau Disease Patients".UROLOGY 83.3(2014).
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