VHL肿瘤抑制基因及其突变的检测

Identification of tumor suppressor gene and intragenic mutations in the von Hippel Lindau patients

目的：研究ｖｏｎ Ｈｉｐｐｅｌ Ｌｉｎｄａｕ（ Ｖ Ｈ 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（ Ｐ Ｃ Ｒ Ｓ Ｓ Ｃ Ｐ）方法和自动化测序仪检测 Ｄ Ｎ Ａ 序列，判别 Ｖ Ｈ Ｌ基因外显子的突变。结果：对１３ 例 Ｖ Ｈ Ｌ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。

Objective: To investigate the mutations of the von Hippel Lindau(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 mutation in 13 cases of VHL patients or candidates. Conclusion: Only simple base mutation of gene in these patients or cadidates was found.