The identification of a novel HLA-B*35:279 allele in a Czech patient is described. This allele is identical to the B*35:03:01 variant except the G/A nucleotide exchange at position 652 of the HLA-B gene that corresponds to the amino acid substitution from valine to isoleucine in alpha 3 domain of the HLA-B antigen.
- MeSH
- alely * MeSH
- HLA-B antigeny genetika imunologie izolace a purifikace MeSH
- lidé MeSH
- sekvence nukleotidů MeSH
- substituce aminokyselin MeSH
- testování histokompatibility MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
- Názvy látek
- HLA-B antigeny MeSH
A somatic mutation of the human leukocyte antigen (HLA)-A gene revealed in tumour cells of acute myelogenous leukemia (AML) is described. A patient with AML and her siblings were routinely typed for HLA in order to find a suitable donor for haematopoietic stem cell transplantation. Sequencing-based typing of the initial patient's sample characterized by high proportion of blasts revealed unknown G/A exchange at position 781 of the HLA-A gene (exon 4) associated with HLA-A*02:01 allele. Importantly, this G781A variant was completely absent in the patient's remission sample obtained after the clearance of blasts. Our results are a reminder that HLA mutations in tumour cells may interfere with routine HLA typing and should always be considered, namely, in patients with haematological malignancies.
- Klíčová slova
- human leukocyte antigen typing, major histocompatibility complex, new HLA allele, polymorphism, somatic mutation,
- MeSH
- akutní myeloidní leukemie genetika patologie terapie MeSH
- alely MeSH
- bodová mutace * MeSH
- dospělí MeSH
- exony genetika MeSH
- HLA-A2 antigen genetika MeSH
- indukce remise MeSH
- lidé MeSH
- missense mutace * MeSH
- molekulární sekvence - údaje MeSH
- nádorové kmenové buňky chemie MeSH
- sekvence nukleotidů MeSH
- sourozenci MeSH
- substituce aminokyselin MeSH
- testování histokompatibility MeSH
- transplantace hematopoetických kmenových buněk MeSH
- zárodečné mutace MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Názvy látek
- HLA-A*02:01 antigen MeSH Prohlížeč
- HLA-A2 antigen MeSH
