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通过 Pacbio 测序识别了新型 HLA-DPB1*1758:01 基因组的鉴定

Dongmei Guo1, Bin Chen2, Tongcui An2

  • 1Department of Hematology, Qilu Hospital (Qingdao) of Shandong University, Qingdao, China.

HLA
|May 13, 2025
PubMed
概括

一个新的人类白细胞抗原 (HLA) DPB1等位基因,HLA-DPB1*1758:01,已被确定. 它与HLA-DPB1*1273:01的区别在于Exon 4中的单个核酸替代.

关键词:
在 HLA-DPB1*1758:01 中.帕克比奥基因的测序一个新的等位基因.

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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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