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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 study the mutation of von Hippel-Lindau (VHL) tumor suppressor gene. Methods: Peripheral blood leukocyte nucleic acids were extracted and the DNA sequences were detected by polymerase chain reaction-single strand conformation polymorphism (P C R-S S C P) and automated sequencer to identify the exon of V H L gene The mutation. RESULTS: Thirteen patients with V H L or those with family history were found to have mutations in 4 cases, and the types of mutations included base insertion, substitution and nonsense mutation. Conclusion: The gene mutation in this group of subjects is mainly simple base mutation.