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Mutations of p53 gene exons 4-8 in human esophageal cancer

机译:食管癌中p53基因外显子4-8的突变

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AIM: To characterize the tumor suppressor gene p53 mutations in exon 4, esophageal cancer and adjacent non-cancerous tissues. METHODS: We performed p53 (exons 4-8) gene mutation analysis on 24 surgically resected human esophageal cancer specimens by PCR, single-strand conformation polymorphism, and DNA sequencing. RESULTS: p53 gene mutations were detected in 9 of 22 (40.9%) esophageal cancer specimens and 10 of 17 (58.8%) adjacent non-cancerous tissues. Eight of sixteen (50.0%) point mutations detected were G-A transitions and 9 of 18 (50.0%) p53 gene mutations occurred in exon 4 in esophageal cancer specimens. Only 1 of 11 mutations detected was G-A transition and 4 of 11 (36.4%) p53 gene mutations occurred in exon 4 in adjacent non-cancerous tissues. CONCLUSION: Mutation of p53 gene in exon 4 may play an important role in development of esophageal cancer. The observation of p53 gene mutation in adjacent non-cancerous tissues suggests that p53 gene mutation may be an early event in esophageal carcinogenesis. Some clinical factors, including age, sex, pre-operation therapy and location of tumors, do not influence p53 gene mutation rates.
机译:目的:鉴定外显子4,食管癌和邻近非癌组织中的抑癌基因p53突变。方法:我们通过PCR,单链构象多态性和DNA测序对24例手术切除的人类食道癌标本进行了p53(第4-8号外显子)基因突变分析。结果:在22例食管癌标本中有9例(占40.9%)和17例邻近非癌组织中有10例(占58.8%)检测到p53基因突变。在食管癌标本的第4外显子中,检测到的16个点突变中的8个(50.0%)是G-A转换,而18个p53基因突变中的9个(50.0%)发生在G-A转换中。检测到的11个突变中只有1个是G-A过渡,而11个p53基因突变中的4个(36.4%)发生在相邻非癌组织的第4外显子中。结论外显子4中p53基因的突变可能在食管癌的发生中起重要作用。在邻近的非癌组织中观察到p53基因突变表明,p53基因突变可能是食管癌变的早期事件。一些临床因素,包括年龄,性别,术前治疗和肿瘤位置,均不影响p53基因突变率。

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