Sequence Analysis and Confirmation of an HLA Null Allele Generated by a Base Insertion
10.19746/j.cnki.issn1009-2137.2025.01.041
- VernacularTitle:碱基插入产生HLA无效等位基因的序列分析及确认
- Author:
Zhan-Rou QUAN
1
;
Yan-Ping ZHONG
1
;
Liu-Mei HE
1
;
Bing-Na YANG
1
;
Hong-Yan ZOU
1
Author Information
1. 深圳市血液中心输血医学研究所,广东 深圳 518040
- Publication Type:Journal Article
- Keywords:
human leucocyte antigen;
null allele;
base insertion;
frameshift mutation;
next-generation sequencing
- From:
Journal of Experimental Hematology
2025;33(1):276-279
- CountryChina
- Language:Chinese
-
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.
