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p53基因的249密码子突变在新加坡华裔肝细胞癌中是一个罕见事件。

Codon 249 mutation of the p53 gene is a rare event in hepatocellular carcinomas from ethnic Chinese in Singapore.

作者信息

Shi C Y, Phang T W, Lin Y, Wee A, Li B, Lee H P, Ong C N

机构信息

Department of Community, Occupational and Family Medicine, National University of Singapore.

出版信息

Br J Cancer. 1995 Jul;72(1):146-9. doi: 10.1038/bjc.1995.291.

Abstract

The present study characterised p53 mutations in 44 hepatocellular carcinomas (HCCs) from Chinese patients residing in a high-incidence area. Twelve point mutations (27%) were detected in tumour tissues using single-strand conformation polymorphism analysis followed by direct DNA sequencing. Remarkably, no mutations were observed at codon 249. This is in contrast to HCCs from other high HCC incidence areas with endemic aflatoxin exposures, in which codon 249 is a mutational hot spot. It is therefore suggested that risk factors other than dietary exposure to aflatoxin may contribute to the high HCC incidence in Singapore.

摘要

本研究对来自高发病率地区的44例中国肝癌(HCC)患者的p53突变进行了特征分析。采用单链构象多态性分析及直接DNA测序法在肿瘤组织中检测到12个点突变(27%)。值得注意的是,在密码子249处未观察到突变。这与其他黄曲霉毒素地方性暴露高发的肝癌高发地区不同,在那些地区密码子249是一个突变热点。因此,提示除饮食中接触黄曲霉毒素外的其他危险因素可能导致了新加坡肝癌的高发病率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4814/2034128/858da4fa08b5/brjcancer00041-0151-a.jpg

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