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HLA‐B*44:138Q: Evidence for a confined deletion and recombination events in an otherwise unaffected HLA‐haplotype

We discovered a new HLA‐B allele, HLA‐B*44:138Q, and confirmed its segregation. For characterisation, we used serology, sequence specific oligonucleotide (SSO), sequence specific primer (SSP), and full length sequencing by Sanger and next‐generation sequencing. From an evolutionary point the 5′ part...

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Autores principales: Faé, Ingrid, Wenda, Sabine, Grill, Cornelia, Fischer, Gottfried F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6590401/
https://www.ncbi.nlm.nih.gov/pubmed/30488584
http://dx.doi.org/10.1111/tan.13439
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author Faé, Ingrid
Wenda, Sabine
Grill, Cornelia
Fischer, Gottfried F.
author_facet Faé, Ingrid
Wenda, Sabine
Grill, Cornelia
Fischer, Gottfried F.
author_sort Faé, Ingrid
collection PubMed
description We discovered a new HLA‐B allele, HLA‐B*44:138Q, and confirmed its segregation. For characterisation, we used serology, sequence specific oligonucleotide (SSO), sequence specific primer (SSP), and full length sequencing by Sanger and next‐generation sequencing. From an evolutionary point the 5′ part of the new allele is identical with alleles from the HLA‐B*44:02 group, while its 3′ part is identical to the HLA‐B*15:18:01:02 allele, the breakpoint being located somewhere between intron 3 and exon 4. The salient feature of the new allele is a deletion of codon 94 in exon 3, which is unique for HLA‐alleles reported so far. Gene conversion can be hypothesised in the generation of this HLA sequence; however, the deletion seems to have occurred additionally. Other HLA‐alleles of the new allele's haplotype were common alleles.
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spelling pubmed-65904012019-07-08 HLA‐B*44:138Q: Evidence for a confined deletion and recombination events in an otherwise unaffected HLA‐haplotype Faé, Ingrid Wenda, Sabine Grill, Cornelia Fischer, Gottfried F. HLA Brief Communications We discovered a new HLA‐B allele, HLA‐B*44:138Q, and confirmed its segregation. For characterisation, we used serology, sequence specific oligonucleotide (SSO), sequence specific primer (SSP), and full length sequencing by Sanger and next‐generation sequencing. From an evolutionary point the 5′ part of the new allele is identical with alleles from the HLA‐B*44:02 group, while its 3′ part is identical to the HLA‐B*15:18:01:02 allele, the breakpoint being located somewhere between intron 3 and exon 4. The salient feature of the new allele is a deletion of codon 94 in exon 3, which is unique for HLA‐alleles reported so far. Gene conversion can be hypothesised in the generation of this HLA sequence; however, the deletion seems to have occurred additionally. Other HLA‐alleles of the new allele's haplotype were common alleles. Blackwell Publishing Ltd 2019-01-06 2019 /pmc/articles/PMC6590401/ /pubmed/30488584 http://dx.doi.org/10.1111/tan.13439 Text en © 2018 The Authors HLA: Immune Response Genetics Published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Communications
Faé, Ingrid
Wenda, Sabine
Grill, Cornelia
Fischer, Gottfried F.
HLA‐B*44:138Q: Evidence for a confined deletion and recombination events in an otherwise unaffected HLA‐haplotype
title HLA‐B*44:138Q: Evidence for a confined deletion and recombination events in an otherwise unaffected HLA‐haplotype
title_full HLA‐B*44:138Q: Evidence for a confined deletion and recombination events in an otherwise unaffected HLA‐haplotype
title_fullStr HLA‐B*44:138Q: Evidence for a confined deletion and recombination events in an otherwise unaffected HLA‐haplotype
title_full_unstemmed HLA‐B*44:138Q: Evidence for a confined deletion and recombination events in an otherwise unaffected HLA‐haplotype
title_short HLA‐B*44:138Q: Evidence for a confined deletion and recombination events in an otherwise unaffected HLA‐haplotype
title_sort hla‐b*44:138q: evidence for a confined deletion and recombination events in an otherwise unaffected hla‐haplotype
topic Brief Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6590401/
https://www.ncbi.nlm.nih.gov/pubmed/30488584
http://dx.doi.org/10.1111/tan.13439
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