Genetic analysis of a Chinese pedigree with an allele dropout at the HLA-B locus / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To delineate a deletional mutation of the HLA-B gene in a Chinese pedigree.@*METHODS@#A female patient with acute myeloid leukemia who had visited Liuzhou People's Hospital in April 2022 was selected as the study subject. Routine human leukocyte antigen (HLA) was determined by using PCR-sequence specific oligonucleotide polymorphism (PCR-SSOP) and PCR-sequence-based typing (PCR-SBT) methods. Next generation sequencing (NGS) was used to validate the candidate variant in the HLA-B gene.@*RESULTS@#The PCR-SBT and SSOP results for the HLA-B locus were inconsistent for the patient and her daughter. The SSOP results of the two individuals were HLA-B*3501, 4002 and HLA-B*3501, 4001, respectively. However, the PCR-SBT results has indicated a mismatch with the nearest HLA-B*3501 at exon 4. NGS results showed that the HLA-B*3501 had a 9 bp deletion in the intron 5. The patient's husband was HLA-B*4001, 5801, which was normal.@*CONCLUSION@#The variant in intron 5 of the HLA-B gene in this pedigree has mapped to a primer-binding region for the SBT reagent, which has affected the accuracy of PCR-SBT results.