基因剪切位点突变

基因剪切位点突变(英语:Splice site mutation)是一种发生于核苷酸特定位点的遗传突变。这些突变包括插入删除或序列的改变,影响了RNA剪接处[1],并可能导致产生的蛋白质失去功能[2]

临床意义

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侏儒症并肌肉、肝、脑、眼异常

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侏儒症并肌肉、肝、脑、眼异常英语Mulibrey nanism(Mulibrey nanism)是一种表现为先天性生长障碍的罕见常染色体隐性遗传病,可以波及身体内多个器官,最初于1970年在芬兰首次报道。目前已有TRIM 37基因剪接位点突变导致此疾病的报道。例如在芬兰患者中检出TRIM37基因剪接区IVS6-2A>G变异[3]、在土耳其患者中发现TRIM37基因IVS9-1G>A纯合变异[4],以及在澳洲患者中发现TRIM37基因IVS10-1G>A与c.326G>C(p.Cys109Ser)复合杂合变异[5]

参考资料

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  1. ^ Berget, Susan. Exon Recognition in Vertebrate Splicing. The Journal of Biological Chemistry. [2019-01-23]. (原始内容存档于2020-03-01). 
  2. ^ Understanding Cancer Genomics: Splice Site Mutations. National Cancer Institute. [2019-01-25]. (原始内容存档于2020-02-03). 
  3. ^ Jagiello, P; Hammans, C; Wieczorek, S; Arning, L; Stefanski, A; Strehl, H; Epplen, JT; Gencik, M. A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.. Human mutation. 2003-06, 21 (6): 630–5 [2020-02-01]. PMID 12754710. doi:10.1002/humu.10220. (原始内容存档于2020-02-01). 
  4. ^ Avela, K; Lipsanen-Nyman, M; Idänheimo, N; Seemanová, E; Rosengren, S; Mäkelä, TP; Perheentupa, J; Chapelle, AD; Lehesjoki, AE. Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.. Nature genetics. 2000-07, 25 (3): 298–301 [2020-02-01]. PMID 10888877. doi:10.1038/77053. (原始内容存档于2020-02-01). 
  5. ^ Hämäläinen, RH; Mowat, D; Gabbett, MT; O'brien, TA; Kallijärvi, J; Lehesjoki, AE. Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.. Clinical genetics. 2006-12, 70 (6): 473–9 [2020-02-01]. PMID 17100991. doi:10.1111/j.1399-0004.2006.00700.x. (原始内容存档于2020-02-01).