人卵巢癌p53基因突变与缺失的研究

MUTATIONS AND ALLELIC LOSSES OF THE p53 GENE IN HUMAN OVARIAN CANCER

采用聚合酶链式反应－单链构型多态分析，对１７例原发性卵巢癌组织ｐ５３基因外显子４～８进行了检测。结果检出突变５例，等位基因丢失５例，各占２９．４％。对１例突变测序分析发现单个碱基置换，导致提前产生１个终止密码。在临床Ⅱ～Ⅳ期癌组织中，均检出ｐ５３基因的改变。故认为ｐ５３基因改变可能发生在卵巢癌的早期，并持续存在于肿瘤发展的全过程，是卵巢癌发生发展的危险因素之一。

The exons 4-8 of the p53 gene were examined in 17 human primary ovarian cancers by using polymerase chain reaction-single strand conformation polymorphism analysis.The results showed 5 cases of mutations (29.4%)and 5 cases of allelic losses(29.4%), respectively. A single base substitution was found by DNA sequencing analysis in one of these mutational cases, which resulted in the emergence of a stop code ahead of time. The alterations of p53 gene commonly detected at the clinical stages Ⅱ-Ⅳ, suggesting that the alterations of the p53 gene are early events and they could go through the whole course of tumor development. The loss of normal function of p53 gene is one of the critical events of the development of ovarian cancer.