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剪接开关反义寡核苷酸诱导的 SMA 患者成纤维细胞外显子夹杂的评价
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JoVE Journal Medicine
Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
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剪接开关反义寡核苷酸诱导的 SMA 患者成纤维细胞外显子夹杂的评价

DOI:
10.3791/57530-v

•

07:02 min

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May 11, 2018

•

, ,
1Department of Medical Genetics,University of Alberta Faculty of Medicine and Dentistry, 2Muscular Dystrophy Canada Research Chair, Department of Medical Genetics,University of Alberta Faculty of Medicine and Dentistry

Chapters

  • 00:05Title
  • 01:00LNA/DNA Mixmer Transfection Followed by One-step RT-PCR to Measure the Exon Inclusion Rate of SMN2
  • 05:07Results: Use of LNA/DNA Mixmers to Study Efficient Inclusion of SMN2 Exon and Rescue of SMN Protein Expression
  • 06:40Conclusion

Summary

Automatic Translation

Automatic Translation

各种反义寡核苷酸 (AONs) 被证明可以诱导外显子夹杂 (剪接调制) 和抢救 SMN 表达的脊髓肌萎缩 (SMA)。在这里, 我们描述了一个协议, 以 lipotransfection 诱导外显子包含在SMN2基因和评价方法, 以确定的有效性, SMA 患者成纤维细胞。

Tags

Exon InclusionSplice SwitchingAntisense OligonucleotidesSMAFibroblastsLipotransfectionTransfectionLNA/DNA MixmerSerum-deprived MediaTransfection ReagentCell ConfluencyGPC ReagentRNA Extraction

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