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首页> 外文期刊>International journal of immunogenetics >HLA-B allele dropout in PCR sequence-specific oligonucleotide probe typing due to intronic polymorphism in the novel B*58:01:01:02 allele
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HLA-B allele dropout in PCR sequence-specific oligonucleotide probe typing due to intronic polymorphism in the novel B*58:01:01:02 allele

机译：由于新型B * 58：01：01：02等位基因中的内含子多态性，PCR序列特异性寡核苷酸探针分型中的HLA-B等位基因缺失

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摘要

Currently, Luminex technology based on the PCR sequence-specific oligonucleotide (SSO) probe method has been widely used for HLA genotyping in the immunogenetics laboratories. Here, we reported a case with HLA-B allele dropout by Luminex technology. The initial HLA-B result of the Luminex method with a commercial agent kit was inconclusive, and then, the result of PCR-SBT technology indicated the dropout as a HLA-B*58 allele. Subsequently, the full-length sequence of HLA-B allele was determined by TOPO-TA cloning, and a novel allele B*58:01:01:02 was identified in the individual. Compared with HLA-B*58: 01: 01: 01, the novel allele showed some nucleotides difference at 509 C>T, 521 T>G and CCC insertion in position 503 of intron 2. According to the full-length sequence, the new mutations of intron 2 were contributed to HLA-B locus allele dropout in the sample. Our results indicated multiplatform should be used to improve the HLA typing accuracy when a conclusive HLA genotype cannot be determined.
机译：当前，基于PCR序列特异性寡核苷酸（SSO）探针方法的Luminex技术已被广泛用于免疫遗传学实验室的HLA基因分型。在这里，我们报道了Luminex技术导致HLA-B等位基因缺失的情况。使用商业试剂盒的Luminex方法的最初HLA-B结果尚无定论，然后，PCR-SBT技术的结果表明该缺失为HLA-B * 58等位基因。随后，通过TOPO-TA克隆确定HLA-B等位基因的全长序列，并在个体中鉴定出新的等位基因B * 58：01：01：02。与HLA-B * 58：01：01：01相比，该新等位基因在内含子2的503位在509 C> T，521 T> G和CCC插入处显示了一些核苷酸差异。内含子2的新突变导致样品中HLA-B基因座等位基因缺失。我们的结果表明，当无法确定最终的HLA基因型时，应使用多平台提高HLA分型的准确性。

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