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通过聚合酶链反应-单链构象多态性分析检测人类卵巢癌和子宫内膜癌中的p53基因突变。

Detection of p53 gene mutations in human ovarian and endometrial cancers by polymerase chain reaction-single strand conformation polymorphism analysis.

作者信息

Naito M, Satake M, Sakai E, Hirano Y, Tsuchida N, Kanzaki H, Ito Y, Mori T

机构信息

Department of Gynecology and Obstetrics, School of Medicine, Kyoto University.

出版信息

Jpn J Cancer Res. 1992 Oct;83(10):1030-6. doi: 10.1111/j.1349-7006.1992.tb02717.x.

Abstract

The presence of mutations in the p53 gene was examined in ovarian cancers by a polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis. The primers were designed to amplify exons 5 through 9 that contain phylogenetically conserved domains of the p53 gene. Mutations were detected in 5 out of 10 cases, one of which contained a deletion in the second allele. A single base substitution was detected in 4 cases at codons 162, 175, 205 and 273 and a single base insertion in one case within codon 315. A high frequency of p53 mutations in ovarian cancers and lack of mutation in 6 benign ovarian tumors and 2 normal ovaries suggested that the mutation of the p53 gene was associated with the genesis and/or progression of ovarian cancer. In 1 of 7 endometrial cancers, two mutations at codons 239 and 254 were detected.

摘要

通过聚合酶链反应-单链构象多态性(PCR-SSCP)分析检测卵巢癌中p53基因的突变情况。设计引物扩增包含p53基因系统发育保守结构域的第5至9外显子。10例中有5例检测到突变,其中1例在第二个等位基因中存在缺失。4例在密码子162、175、205和273处检测到单碱基替换,1例在密码子315内检测到单碱基插入。卵巢癌中p53突变的高频率以及6例良性卵巢肿瘤和2例正常卵巢中未检测到突变表明,p53基因的突变与卵巢癌发生和/或进展相关。在7例子宫内膜癌中的1例中,检测到密码子239和254处有两个突变。

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