| 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： |
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| 基金项目: |
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| 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 |
