框移突变
框移突变（Frameshift mutation）又称移码突变，为一种基因突变，由非三的倍数个核苷酸的插入或删除（indel）造成，因基因表达时密码子是由三个核苷酸组成，此类插入或删除会改变阅读框架，进而使mRNA在此突变以后翻译出完全不同的蛋白质。框移突变在开放阅读框越上游的区域发生，对蛋白质的影响越大[1]，且因框移突变可能会改变终止密码子出现的位置，也会改变翻译出蛋白质的大小，一般会使其完全失去功能[2]。
Tay-sachs[3]、家族性高胆固醇血症[4]、史密斯-马吉利综合征、克隆氏症[5] 等许多遗传疾病和多种癌症[6]皆与基因发生框移突变有关。
参考文献
[编辑]- ^ Losick, Richard; Watson, James D.; Baker, Tania A.; Bell, Stephen; Gann, Alexander; Levine, Michael W. Molecular biology of the gene 6th. San Francisco: Pearson/Benjamin Cummings. 2008. ISBN 978-0-8053-9592-1.
- ^ DNA Is Constantly Changing through the Process of Mutation. Nature. [2019-05-17]. （原始内容存档于2021-08-03）.
- ^ Myerowitz, R. Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.. Human Mutation. 1997, 9 (3): 195–208. PMID 9090523. doi:10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7.
- ^ Rader DJ, Cohen J, Hobbs HH. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment.. J Clin Invest. 2003, 111 (12): 1795–803. PMC 161432
. PMID 12813012. doi:10.1172/JCI18925.
- ^ Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH, Achkar JP, Brant SR, Bayless TM, Kirschner BS, Hanauer SB, Nuñez G, Cho JH. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. (PDF). Nature. 2001-05-31, 411 (6837): 603–6 [2021-04-22]. PMID 11385577. doi:10.1038/35079114. hdl:2027.42/62856. （原始内容存档 (PDF)于2020-06-02）.
- ^ Cancer Genomics. National Cancer Institute at the National Institute of Health. [2013-03-24]. （原始内容存档于2013-03-18）.
