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Expression profile of HLA‐B*38:55Q allele
Author(s) -
Fusco Caterina,
Cervelli Carla,
Dal Mas Antonella,
Canossi Angelica,
Azzarone Raffaella,
Valdez Olaida,
Auriemma Laura,
Madalese Donato,
Maisto Giovanna,
Toriello Mario,
Penta de Vera d'Aragona Roberta,
Scimitarra Maria,
Scarnecchia Maria A.,
Battistoni Carla,
Fracassi Daniela,
Papola Franco
Publication year - 2020
Publication title -
hla
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.347
H-Index - 99
eISSN - 2059-2310
pISSN - 2059-2302
DOI - 10.1111/tan.13790
Subject(s) - biology , allele , microbiology and biotechnology , null allele , primer (cosmetics) , human leukocyte antigen , transplantation , polymerase chain reaction , exon , complementary dna , genetics , hla b , antigen , gene , medicine , chemistry , surgery , organic chemistry
The identification of null or questionably expressed HLA allelic variants is a major issue in HLA diagnostics, because the mistyping of the aberrant expression of such alleles can have a major impact on the outcome of both hematopoietic stem cell transplantation (HSCT) and solid organ transplants. It is debated how questionable (Q) alleles, because of their unknown expression profile, should be considered in an allogenic HSCT setting. The HLA‐B*38:55Q allele was detected as an HLA‐B blank specificity; DNA sequencing identified a single polymorphism at position 373 in exon 3 (TGC > CGC), which results in the replacement of cysteine 101 with an arginine in the HLA‐B heavy chain, thus, impairing disulfide bridge formation in the alpha‐2 domain, essential for the normal expression of the HLA molecules. In order to determine the RNA and protein expression profile of this allelic variant, we analyzed antigenic expression at different levels, transcriptional and transductional, using a combination of cellular methods, such as serological testing and flow cytometric analysis, polymerase chain reaction ( PCR) sequence‐specific primer (SSP) cDNA group‐specific amplification and immunocytochemical assay, demonstrating the prevalent cytoplasmatic distribution of the HLA‐B*38:55Q protein. Our findings suggest that in matching process the HLA‐B*38:55Q allele needs to be considered as a low expressed allele, able to elicit an allogenic T‐cell response in vivo and impair the transplant outcome.