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在USH2A中使用有针对性的长读测序来调查拼接缺陷.

Shwetha Chandrasekhar1, Siying Lin1,2, Neringa Jurkute1,2,3

  • 1UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.

Cells
|August 9, 2024
PubMed
概括

这项研究使用RT-PCR和牛津纳米孔技术测序来分析鼻细胞中的USH2AmRNA. 它从功能上描述了变异的拼接变化,改善了阿舍尔综合征和视网膜色素炎的分子诊断.

关键词:
牛津纳米孔测序的测序在USH2A中使用.隐秘的拼接改变变体变体.深度内源变异是一种深度内源变异.遗传视网膜疾病 遗传视网膜疾病长时间阅读序列排序.鼻腔上皮细胞 鼻腔上皮细胞

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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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