Cargando…
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...
Autores principales: | , , , |
---|---|
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 |
_version_ | 1783429551388360704 |
---|---|
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. |
format | Online Article Text |
id | pubmed-6590401 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Blackwell Publishing Ltd |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT faeingrid hlab44138qevidenceforaconfineddeletionandrecombinationeventsinanotherwiseunaffectedhlahaplotype AT wendasabine hlab44138qevidenceforaconfineddeletionandrecombinationeventsinanotherwiseunaffectedhlahaplotype AT grillcornelia hlab44138qevidenceforaconfineddeletionandrecombinationeventsinanotherwiseunaffectedhlahaplotype AT fischergottfriedf hlab44138qevidenceforaconfineddeletionandrecombinationeventsinanotherwiseunaffectedhlahaplotype |