框移突變
框移突變（Frameshift mutation）又稱移碼突變，為一種基因突變，由非三的倍數個核苷酸的插入或刪除（indel）造成，因基因表現時密碼子是由三個核苷酸組成，此類插入或刪除會改變閱讀框架，進而使mRNA在此突變以後轉譯出完全不同的蛋白質。框移突變在開放閱讀框越上游的區域發生，對蛋白質的影響越大[1]，且因框移突變可能會改變終止密碼子出現的位置，也會改變轉譯出蛋白質的大小，一般會使其完全失去功能[2]。
Tay-sachs[3]、家族性高胆固醇血症[4]、史密斯-马吉利综合症、克隆氏症[5] 等許多遺傳疾病和多種癌症[6]皆與基因發生框移突變有關。
參考文獻
- ^ 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）.
