[Sequence Analysis and Confirmation of an HLA Null Allele Generated by a Base Insertion].

Q4 Medicine
Zhan-Rou Quan, Yan-Ping Zhong, Liu-Mei He, Bing-Na Yang, Hong-Yan Zou
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引用次数: 0

Abstract

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.

[碱基插入产生的HLA空等位基因的序列分析和确认]。
目的:确定碱基插入产生的空等位基因HLA-C*08:127N的序列。方法:采用PCR序列特异性寡核苷酸探针(SSOP)和PCR序列分型(SBT)进行HLA常规检测,发现1例急性髓系白血病患者HLA- c异常序列图谱。上述基因座的序列经下一代测序技术(NGS)确认。结果:SSOP分型结果显示HLA-C位点为C*03:04, C*08:01,而SBT怀疑该序列在外显子3插入或删除,最终NGS确认为C*03:04, C*08:127N。结论:当碱基插入产生HLA空等位基因时,SBT分析软件无法提供正确的结果,而NGS技术可以更直观地获得准确的HLA分型结果。
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来源期刊
中国实验血液学杂志
中国实验血液学杂志 Medicine-Medicine (all)
CiteScore
0.40
自引率
0.00%
发文量
7331
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