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人类致癌过程中的高突变性与沉默突变

Hypermutability and silent mutations in human carcinogenesis.

作者信息

Strauss B S

机构信息

Department of Molecular Genetics and Cell Biology, The University of Chicago, 920 East 58th Street, Chicago, IL, 60637, USA.

出版信息

Semin Cancer Biol. 1998 Dec;8(6):431-8. doi: 10.1006/scbi.1998.0092.

DOI:10.1006/scbi.1998.0092
PMID:10191177
Abstract

Silent or synonymous mutations are nucleotide changes which do not result in an amino acid change. Such alterations make up approximately 4% of the total TP53 mutations in a database of almost 10,000 mutations. Insofar as these changes do not confer a selective advantage, silent mutations make it possible to estimate an unbiased mutation frequency. Since this frequency is at least 100 times higher than would be expected for normal tissue, tumors must be hypermutable. In addition, a class of tumors may be supermutable with a mutation frequency comparable to that observed in the generation of immune diversity.

摘要

沉默突变或同义突变是指不会导致氨基酸变化的核苷酸改变。在一个近10000个突变的数据库中,此类改变约占TP53总突变的4%。由于这些变化不赋予选择优势,沉默突变使得估计无偏倚的突变频率成为可能。由于该频率至少比正常组织预期的高100倍,肿瘤必定是高度易变的。此外,一类肿瘤可能是超易变的,其突变频率与免疫多样性产生过程中观察到的频率相当。

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