摘要目的:探讨1个家系的 HLA-B基因的碱基缺失情况。 方法:选取2022年4月就诊于广西柳州市人民医院的1例急性髓系白血病女性患者、丈夫和女儿作为研究对象，应用PCR-序列特异性寡核苷酸探针(PCR-SSOP)及PCR-直接测序法(PCR-SBT)对该家系进行人类白细胞抗原(HLA)常规检测。应用二代测序技术(NGS)对 HLA-B基因序列进行确认。 结果:患者及其女儿 HLA-B位点的PCR-SBT和PCR-SSOP结果不一致，PCR-SSOP结果分别为 HLA-B*35：01，40：02和 HLA-B*35：01，40：01，PCR-SBT结果则均提示与最接近的 HLA-B*35：01在第4外显子处有错配。NGS结果显示患者及其女儿 HLA-B*35：01第5内含子处有1段9 bp的碱基序列缺失。患者丈夫结果为 HLA-B*40：01，58：01，无异常。 结论:该家系 HLA-B基因第5内含子处的变异位于SBT检测的引物结合区，影响了PCR-SBT分型结果的准确性。

abstractsObjective: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*35: 01, 40: 02 and HLA-B*35: 01, 40: 01, respectively. However, the PCR-SBT results has indicated a mismatch with the nearest HLA-B*35: 01 at exon 4. NGS results showed that the HLA-B*35: 01 had a 9 bp deletion in the intron 5. The patient′s husband was HLA-B*40: 01, 58: 01, 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.