Sequence Analysis and Confirmation of an HLA Null Allele Generated by a Base Insertion.
10.19746/j.cnki.issn.1009-2137.2025.01.041
- Author:
Zhan-Rou QUAN
1
;
Yan-Ping ZHONG
1
;
Liu-Mei HE
1
;
Bing-Na YANG
1
;
Hong-Yan ZOU
1
Author Information
1. Institute of Transfusion Medicine, Shenzhen Blood Center, Shenzhen 518040, Guangdong Province, China.
- Publication Type:Journal Article
- Keywords:
human leucocyte antigen;
null allele;
base insertion;
frameshift mutation;
next-generation sequencing
- MeSH:
Humans;
Alleles;
High-Throughput Nucleotide Sequencing;
HLA-C Antigens/genetics*;
Histocompatibility Testing;
Polymerase Chain Reaction;
Leukemia, Myeloid, Acute/genetics*;
Sequence Analysis, DNA;
Mutagenesis, Insertional;
Exons
- 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.
