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  • 叶朝阳.VHL肿瘤抑制基因及其突变的检测[J].第二军医大学学报,1999,20(9):    [点击复制]
  • 叶朝阳.Identification of tumor suppressor gene and intragenic mutations in the von Hip pel-Lindau patients[J].Acad J Sec Mil Med Univ,1999,20(9):   [点击复制]
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VHL肿瘤抑制基因及其突变的检测
叶朝阳
0
(第二军医大学长征医院肾内科)
摘要:
目的:研究von Hippel-Lindau(VH L)肿瘤抑制基因的突变。方法:提取外周血白细胞核酸,应用聚合酶 链反应-单链构象多态性分析(PCR-SSCP)方法和自动化测序仪检测DNA 序列, 判别VHL基因外显子的突变。结果:对13例VHL患者或有家族史者检测 ,发现4例有突变,突 变类型有碱基插入、置换和无意义变异。结论:本组受测者的基因突 变主要是碱基简单变异。
关键词:  基因,von Hippel-Lindau  突变`
DOI:
基金项目:
Identification of tumor suppressor gene and intragenic mutations in the von Hip pel-Lindau patients
叶朝阳
()
Abstract:
Objective: To investigate the mutations of the von Hippel-Lind au(VHL) tumor suppressor gene. Methods: The DNA of the white blood cells of VHL patients were isolated. The mutation of VHL gene were detected by using PCR-SSCP methods and automatical sequencer. Results: There were 4 mutations which were insertion, replacement and non-sense muta ti on in 13 cases of VHL patients or candidates. Conclusion: Only s imple base mutation of gene in these patients or cadidates was found.
Key words:  genes,von Hippel-Lindau  mutation