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学科主题临床医学
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
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
2012-04-01
DOI10.1038/jhg.2012.10
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
WOS记录号WOS:000303416800004
项目编号30872560 ; 81172418
资助机构National Natural Science Foundation of China
引用统计
被引频次:26[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/400002259/64099
专题北京大学第一临床医学院_泌尿外科
北京大学第三临床医学院_骨科
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
推荐引用方式
GB/T 7714
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.
APA Wu, Pengjie.,Zhang, Ning.,Wang, Xi.,Ning, Xianghui.,Li, Teng.,...&Gong, Kan.(2012).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.JOURNAL OF HUMAN GENETICS,57(4),238-243.
MLA Wu, Pengjie,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".JOURNAL OF HUMAN GENETICS 57.4(2012):238-243.
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