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乳腺增生病p53基因第6外显子突变检测 被引量:2

MUTATIONS ON EXON 6 OF p53 GENE IN BREAST HYPERPLASIA
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摘要 目的 :探讨p5 3基因在乳腺癌发生早期的作用及早期诊断乳腺癌的分子病理指标。方法 :用PCR -SSCP检测36例乳腺单纯性增生、 31例不典型增生、 30例乳腺癌中p5 3基因第 6外显子突变 ,用DNA直接测序技术确定突变的碱基及其所在的密码子。结果 :乳腺单纯性增生、不典型增生、乳腺癌中p5 3基因第 6外显子的突变率分别为 0、6 5 % (2 / 31)、 13 3% (4/ 30 )。 6个点突变均为碱基替换 ,其中 4个发生于第 192密码子 (CAG→TAG) ,2个发生于第2 13密码子 (CGA→TGA) ,两者均导致多肽链合成提前终止。结论 :乳腺癌不典型增生中存在p5 3基因第 6外显子突变 ,该突变可能在乳腺不典型增生发展到乳腺癌过程中起重要作用 ,可作为早期诊断乳腺癌的辅助指标。 Objective: To investigate the role p53 gene in the early stage of human breast carcinogenesis and early diagnosis of breast carcinoma. Method: 36 cases of epithelial hyperplasia of usual type, 31 ones of atypical hyperplasia and 30 ones of breast intraductal carcinoma were employed to detect the expon 6 mutations of p53 gene by polymerase chain reaction single-strand conformational polymorphism (PCR-SSCP) and direct DNA sequencing. Result: Mutation rates in exon 6 were 0 in epithelial hyperplasia of usual type, 6.5% in breast atypical hyperplasia and 13.3% in intracuctal carcinoma. The mutation sites were located at coden 192(CAG→TAG) or codon 213(CGA→TGA). Conclusion: Exon 6 mutations in p53 gene is involved in the breast atypical hyperplasia, which may play an important role in the development from atypical hyperplasia to breast carcinoma, and may be used as an assistant index in the early diagnosis of breast carcinoma.
出处 《西南国防医药》 CAS 2002年第3期207-210,共4页 Medical Journal of National Defending Forces in Southwest China
基金 云南省自然科学基金资助 (NO :97C0 96M)
关键词 乳腺增生病 p53基因第6外显子 突变 诊断 breast hyperplasia, exon 6, p53 gene, mutation
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