Molecular genetics research of a Chinese family carrying triple HLA-A alleles
Journal Title: Chinese Journal of Blood Transfusion - Year 2023, Vol 36, Issue 6
Abstract
Objective To determine molecular basis of a rare HLA-A typing results carrying triple A alleles in potential allo-HSCT donor and her family. Methods HLA-A, -B, -C, -DRB1, -DQB1, -E, -F, -G of 5 members in the family were genotyped at a high-resolution level using next-generation sequencing (NGS). HLA-A of probosita was re-checked using polymerase chain reaction-sequence-based typing (PCR-SBT), and SNP oligonucleotide probes (SNP-array)were scanned with genomic DNA of probosita. Results There was 162.9Kb duplication in 6p22.1(29, 803, 377-29, 966, 301)of probosita who carried triple A alleles A*02∶01∶01, A*11∶01∶01, A*24∶02∶01. Other two family members were found to carry this haplotype: A*02∶01∶01, A*24∶02∶01, B*54∶01∶01, C*01∶02∶01, DRB1*04∶05∶01, DQB1*04∶01∶01, E*01∶01∶01∶03, F*01∶01∶01, G*01∶01∶01∶01, which as a Mendelian gene was segregated and stably transmitted through two generations. Conclusion Tiny gene duplication induces one haplotype carries two HLA-A alleles in a potential healthy donor for allo-transplantaion and stably transmits through two generations.Routine HLA typing laboratories should pay more attention to this situation and accurately report.
Authors and Affiliations
Dan WANG, Xiangjun LIU, Yunfeng SONG, Xiaodong LYU
Keywords
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- EP ID EP738565
- DOI 10.13303/j.cjbt.issn.1004-549x.2023.06.008
- Views 41
- Downloads 0
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