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妊娠滋养细胞肿瘤中肿瘤抑制基因p53的罕见突变

Infrequent mutation in tumor suppressor gene p53 in gestational trophoblastic neoplasia.

作者信息

Chen C A, Chen Y H, Chen T M, Ko T M, Wu C C, Lee C N, Hsieh C Y

机构信息

Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University Hospital, Taipei.

出版信息

Carcinogenesis. 1994 Oct;15(10):2221-3. doi: 10.1093/carcin/15.10.2221.

Abstract

In order to determine the p53 status of gestational trophoblastic neoplasia, 24 cases of molar pregnancies and two choriocarcinoma cell lines (JAR and JEG-3) were evaluated for the presence of mutations. The evaluation involved the whole coding sequence (i.e. exons 2-11) of the p53 gene with polymerase chain reaction (PCR) amplification of genomic DNA, followed by single strand conformation polymorphism (SSCP) and sequencing. Only one case of hydatidiform mole was found to have a missense point mutation (codon 295, CCT-->CTT, i.e. proline to leucine) of the p53 gene. The results suggest that p53 mutation is rarely involved in the pathogenesis of gestational trophoblastic neoplasia.

摘要

为了确定妊娠滋养细胞肿瘤的p53状态,对24例葡萄胎妊娠病例和两种绒毛膜癌细胞系(JAR和JEG-3)进行了突变检测。检测方法包括用聚合酶链反应(PCR)扩增基因组DNA以评估p53基因的整个编码序列(即外显子2-11),随后进行单链构象多态性(SSCP)分析和测序。仅发现1例葡萄胎存在p53基因错义点突变(密码子295,CCT→CTT,即脯氨酸突变为亮氨酸)。结果表明,p53突变很少参与妊娠滋养细胞肿瘤的发病机制。

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