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Updated: Jun 8, 2025

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精细地图和原发性硬化胆管炎遗传风险位置的分子特征

Elizabeth C Goode1,2,3, Laura Fachal1, Nikolaos Panousis1

  • 1Wellcome Sanger Institute, Hinxton, Cambridge, UK.

Nature communications
|November 6, 2024
PubMed
概括

这项研究通过分析T细胞基因表达,确定了原发性硬化性脑膜炎 (PSC) 背后的基因和调控机制. 研究结果提名了这种复杂的自身免疫性肝病的潜在药物点.

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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