Zhan-Rou Quan, Yan-Ping Zhong, Liu-Mei He, Bing-Na Yang, Hong-Yan Zou
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[Sequence Analysis and Confirmation of an HLA Null Allele Generated by a Base Insertion].
Objective: To confirm the sequence of a null allele HLA-C*08:127N produced by a base insertion.
Methods: PCR sequence-specific oligonucleotide probe (SSOP) and PCR sequence-based typing (SBT) were used for HLA routine detection, which discovered abnormal sequence maps of HLA-C in one acute myeloid leukemia patient. The sequence of the above loci was confirmed by next generation sequencing (NGS) technology.
Results: The SSOP typing result showed that HLA-C locus was C*03:04, C*08:01, while the sequence was suspected to be inserted or deleted in exon 3 by SBT, and finally confirmed by NGS as C*03:04, C*08:127N.
Conclusion: When base insertion produces HLA null alleles, SBT analysis software cannot provide correct results, but NGS technology can more intuitively obtain accurate HLA typing results.
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