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。
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*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.
作者
何柳媚
全湛柔
钟艳平
邹红岩
He Liumei;Quan Zhanrou;Zhong Yanping;Zou Hongyan(Institute of Transfusion Medicine,Shenzhen Blood Center,Shenzhen,Guangdong 518020,China)
出处
《中华医学遗传学杂志》
CSCD
2024年第1期47-51,共5页
Chinese Journal of Medical Genetics
基金
深圳市医学重点学科(SZXK070)
深圳市医疗卫生三名工程项目(SZSM201811092)。
