| 张前军1,2 李汶1,2 李双飞2 汤蔚琳2 李麓芸1,2 卢光琇1,2△.一VHL 家系致病基因突变的检测与分析*[J].,2012,12(26):5005-5008 |
| 一VHL 家系致病基因突变的检测与分析* |
| Identification and Analysis of Mutations in VHL Patients* |
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| DOI： |
| 中文关键词: VHL病 中枢神经系统疾病 多态 遗传 |
| 英文关键词: Von Hippel- Lindau Disease Central Nervous System Diseases Polymorphism Genetic |
| 基金项目:教育部博士点基金资助项目（20090162120032）；湖南省科技计划资助项目（2010FJ3026） |
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| 中文摘要: |
| 教育部博士点基金资助项目（20090162120032）；湖南省科技计划资助项目（2010FJ3026） |
| 英文摘要: |
| Objective: To determine characters and distributions of VHL gene mutations and discuss the pathogenic, clinical
characteristics, diagnosis and treatment progress of VHL disease. Methods: Using genome DNA PCR (polymerase chain reactions) amplify
all 3 exons of VHL gene and 5'UTR (un-transcribed region). PCR products were analyzed and sequenced. Results: There are no mutations
in exon 1 and exon 2 of VHL. A missense mutation c.499C>G (p.R167Q) in exon 3 was identified to lead to the onset of the VHL
family by DNA sequencing. Conclusions: Mutations of VHL gene are mainly found in the α β function domain. Mutation of p.R167Q is
the reason for the VHL patients. |
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