Molecular genetics research of a Chinese family carrying triple HLA-A alleles
10.13303/j.cjbt.issn.1004-549x.2023.06.008
- VernacularTitle:HLA-A基因三倍体家庭的分子遗传学研究
- Author:
Dan WANG
1
;
Xiangjun LIU
1
;
Yunfeng SONG
2
;
Xiaodong LYU
2
Author Information
1. BFR Medical Laboratory Co., Ltd, Beijing 100176, China
2. Laboratory Department, Henan Cancer Hospital
- Publication Type:Journal Article
- Keywords:
triple HLA-A alleles;
haplotype;
pedigree investigation;
gene sequencing;
allo-HSCT;
acute myeloid leukemia
- From:
Chinese Journal of Blood Transfusion
2023;36(6):492-495
- CountryChina
- Language:Chinese
-
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.
