| http://purl.uniprot.org/citations/38171559 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/38171559 | http://www.w3.org/2000/01/rdf-schema#comment | "ObjectiveTo delineate a deletional mutation of the HLA-B gene in a Chinese pedigree.MethodsA 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.ResultsThe 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.ConclusionThe 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."xsd:string |
| http://purl.uniprot.org/citations/38171559 | http://purl.org/dc/terms/identifier | "doi:10.3760/cma.j.cn511374-20221020-00701"xsd:string |
| http://purl.uniprot.org/citations/38171559 | http://purl.uniprot.org/core/author | "Zhong Y."xsd:string |
| http://purl.uniprot.org/citations/38171559 | http://purl.uniprot.org/core/author | "Zou H."xsd:string |
| http://purl.uniprot.org/citations/38171559 | http://purl.uniprot.org/core/author | "He L."xsd:string |
| http://purl.uniprot.org/citations/38171559 | http://purl.uniprot.org/core/author | "Quan Z."xsd:string |
| http://purl.uniprot.org/citations/38171559 | http://purl.uniprot.org/core/date | "2024"xsd:gYear |
| http://purl.uniprot.org/citations/38171559 | http://purl.uniprot.org/core/name | "Zhonghua Yi Xue Yi Chuan Xue Za Zhi"xsd:string |
| http://purl.uniprot.org/citations/38171559 | http://purl.uniprot.org/core/pages | "47-51"xsd:string |
| http://purl.uniprot.org/citations/38171559 | http://purl.uniprot.org/core/title | "[Genetic analysis of a Chinese pedigree with an allele dropout at the HLA-B locus]."xsd:string |
| http://purl.uniprot.org/citations/38171559 | http://purl.uniprot.org/core/volume | "41"xsd:string |
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