4.4 Article

Characterization of 40 novel HLA class I and class II alleles identified in umbilical cord blood units

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HLA
卷 101, 期 6, 页码 660-663

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WILEY
DOI: 10.1111/tan.15027

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NGS HLA typing; novel alleles; umbilical cord blood samples

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Forty novel HLA class I and class II alleles were discovered in umbilical cord blood samples and classified into different types of mutations. This study identified 14 new HLA-A alleles, 9 new HLA-B alleles, 4 new HLA-C alleles, 3 new HLA-DRB1 alleles, and 10 new HLA-DQB1 alleles. Comparison with the most similar sequence revealed that 60% of the novel alleles had non-synonymous substitution, 32.5% had synonymous substitution, 5% had premature stop codon, and 2.5% had frameshift mutation. The majority of the new alleles had a single nucleotide variation compared to the most similar sequence.
Forty novel HLA class I and class II alleles were identified in umbilical cord blood (UCB) samples and categorized based on various types of mutations: non-synonymous, synonymous, frameshift, and premature termination codon. This study described 14 novel HLA-A alleles, 9 novel HLA-B alleles, 4 novel HLA-C alleles, 3 novel HLA-DRB1 alleles and 10 novel HLA-DQB1 alleles. Comparing the new allele sequence with the most homologous sequence, 60% of the novel alleles exhibited non-synonymous substitution, 32.5% observed with synonymous substitution, 5% displayed premature stop codon, and 2.5% presented with frameshift mutation. The majority of the new alleles contained a single nucleotide variation when compared with the most similar sequence.

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