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学科主题: 临床医学
题名:
Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients
作者: Wu, Pengjie1,2,3; Zhang, Ning4; Wang, Xi1,2,3; Ning, Xianghui1,2,3; Li, Teng1,2,3; Bu, Dingfang5; Gong, Kan1,2,3
关键词: Chinese ; de novo mutation ; mutation ; renal cell carcinoma ; von Hippel-Lindau disease
刊名: JOURNAL OF HUMAN GENETICS
发表日期: 2012-04-01
DOI: 10.1038/jhg.2012.10
卷: 57, 期:4, 页:238-243
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: TUMOR-SUPPRESSOR GENE ; GENOTYPE-PHENOTYPE CORRELATIONS ; GERMLINE MUTATIONS ; GROWTH-FACTOR ; IDENTIFICATION ; FEATURES ; HYPOXIA ; CANCER ; CELLS
英文摘要:

Von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome caused by germline mutations in VHL tumor suppressor gene. It is characterized by hemangioblastoma in central nervous system and retina, renal cell carcinoma or cyst, pheochromocytoma, pancreatic cyst and tumor, endolymphatic-sac tumor, and papillary cystadenoma in epididymis and broad ligament. Here, we used PCR-direct sequencing and universal primer quantitative fluorescent multiplex PCR (UPQFM-PCR) to detect VHL mutations in 16 patients clinically diagnosed with VHL disease. PCR-direct sequencing detected 12 germline mutations (75%, 12/16), in which a novel mutation of c.451A>T/p.Ile151Phe found in one proband had not been reported previously. UPQFM-PCR found two large deletions (12.5%, 2/16). The two remaining patients carried non-typical disease-causing mutations, including one silent mutation (c.481C>A/p.Arg161Arg) and one mutation in 3′-UTR (c.642+70C>A). Remarkably, 56.3% (9/16) probands did not have family history of VHL disease, suggesting the higher frequency of de novo mutations in Chinese patients. We also summarized Chinese VHL disease patients with VHL mutation findings published in the literature to provide information about the spectrum of VHL mutations in Chinese VHL disease patients. Journal of Human Genetics (2012) 57, 238-243; doi:10.1038/jhg.2012.10; published online 23 February 2012

语种: 英语
所属项目编号: 30872560 ; 81172418
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000303416800004
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/64099
Appears in Collections:北京大学第一临床医学院_泌尿外科_期刊论文

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作者单位: 1.Peking Univ, Inst Urol, Beijing 100034, Peoples R China
2.Natl Urol Canc Ctr, Beijing 100034, Peoples R China
3.Peking Univ, Dept Urol, Hosp 1, Beijing 100034, Peoples R China
4.Capital Univ Med Sci, Beijing Chaoyang Hosp, Dept Urol, Beijing, Peoples R China
5.Peking Univ, Hosp 1, Dept Cent Lab, Beijing 100034, Peoples R China

Recommended Citation:
Wu, Pengjie,Zhang, Ning,Wang, Xi,et al. Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients[J]. JOURNAL OF HUMAN GENETICS,2012,57(4):238-243.
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