Premium
HLA‐B*44:138Q : Evidence for a confined deletion and recombination events in an otherwise unaffected HLA‐haplotype
Author(s) -
Faé Ingrid,
Wenda Sabine,
Grill Cornelia,
Fischer Gottfried F.
Publication year - 2019
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.13439
Subject(s) - genetics , allele , biology , haplotype , sanger sequencing , human leukocyte antigen , exon , hla a , gene , dna sequencing , sequence (biology) , microbiology and biotechnology , antigen
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.