脑肿瘤p16基因缺失，突变及5’CpG岛甲基化研究

目的：探讨不同种类的脑肿瘤P16基因变异及其与脑肿瘤的发生，发展的关系。方法：利用PCR，PCR－SSCP及PCR－based甲基化技术检测了56例胶质瘤，15例脑膜瘤及2例原发性脑淋巴瘤P16基因缺失，突变及5’CpG岛甲基化状况，结果：18例高病理级别的脑胶质瘤及1例原发性脑淋巴瘤发生P16基因缺失；6例脑胶质瘤及1例原发性脑淋巴瘤发生P16基因5’CpG岛甲基化，无1例发生P16基因突变。结论：P16基因失活可能参与脑胶质瘤的发生，恶性进展及原发性脑淋巴瘤的发生，P16基因缺失是P16基因失活的主要机制。

DELETION, MUTATION AND 5 CpG ISLAND METHYLATION OF p16 GENE IN BRAIN TUMOR

Objective To investigate the different abnormalities of p16 g ene and their correlation with the occurrence or malignant progression of brain tumor. Methods Deletion, mutation and 5'CpG island methylation were detected in 56 brain glioma, 15 meningioma and 2 primary brain lymphoma b y the use of the method of PCR, PCR-SSCP and PCR based methylation. Res ults Homozygous deletion of p16 gene were found in 18 cases of malignan t brain glioma and 1 primary brain lymphoma, 6 cases of brain glioma and 1 pr imary brain lymphoma were found to be methylated in 5'CpG island of p16 gene, wh ile mutatation of p16 gene was not found in any of the detected tumors.C onclusion Inactivation of p16 gene may be involved in the occurrence o r m alignant progression of brain glioma and genesis of primary brain lymphoma. Homo zygous deletion of p16 gene is the major mechananism for inactivation of p16 gen e