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[鼻咽癌中p53基因的热点突变]

[A hot-spot mutation of p53 gene in nasopharyngeal carcinoma].

作者信息

Chen R, Zhu D, Yin W

机构信息

Cancer Institute and Hospital, Chinese Academy of Medical Sciences, Beijing.

出版信息

Zhonghua Zhong Liu Za Zhi. 1995 Nov;17(6):401-4.

PMID:8697986
Abstract

Using DNA sequencing and immunohistochemical staining, p53 gene mutation and overexpression were investigated in 23 formalin-fixed and paraffin-embedded specimens of nasopharyngeal carcinoma (NPC). All patients were from regions of low NPC incidence in China. Sequencing of exon 7 and exon 8, revealed p53 gene mutation in 15 of the 23 specimens (65.2%). All the mutations were at codon 273(CGT-->CAT), so that arginine encoded by this codon was replaced by histidine. In addition, p53 overexpression was found in another NPC specimen without mutation in exon 7 or 8 of p53 gene. The results suggest that p53 gene mutation is of common occurrence in NPC. The hot-spot mutation at codon 273 might be related to some special carcinogen in the environment, or this change be essential in the multi-step process of carcinogenesis of the nasopharynx.

摘要

运用DNA测序和免疫组化染色技术,对23例经福尔马林固定、石蜡包埋的鼻咽癌(NPC)标本进行了p53基因突变及过表达情况的研究。所有患者均来自中国鼻咽癌低发地区。对第7外显子和第8外显子进行测序,结果显示23例标本中有15例(65.2%)存在p53基因突变。所有突变均发生在第273密码子(CGT→CAT),导致该密码子编码的精氨酸被组氨酸取代。此外,在另一例p53基因第7或第8外显子无突变的鼻咽癌标本中发现了p53过表达。结果提示,p53基因突变在鼻咽癌中较为常见。第273密码子的热点突变可能与环境中的某些特殊致癌物有关,或者这种变化在鼻咽癌发生的多步骤过程中至关重要。

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