RESUMO
In this paper, we describe 10 novel HLA alleles discovered, submitted and officially named in the calendar years 2022 through the end of 2023.
Assuntos
Alelos , Antígenos HLA , Humanos , Antígenos HLA/genética , Teste de HistocompatibilidadeRESUMO
In this paper, we describe 15 novel HLA alleles discovered and officially named in the calendar years 2019 through the first half of 2021.
Assuntos
Alelos , Éxons , Antígenos HLA/imunologia , Feminino , Antígenos HLA/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , MasculinoRESUMO
This manuscript is a continuation of this laboratory's journey to identifying novel HLA alleles while performing routine clinical HLA laboratory testing. Since our last paper, we have identified an additional 28 novel HLA alleles that are identified and described herein. One novel allele was found in two unrelated patients that were HLA typed for different reasons at two different times, suggesting that novel alleles may be much more frequent than previously expected. If the rate of identification is hindered by bioinformatics challenges, there is a great potential for our patients to suffer needlessly from incomplete information in either diagnostics or unrecognized incompatibilities with potential donors.
Assuntos
Transplante de Medula Óssea , Genótipo , Antígenos HLA/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Mutação/genética , Alelos , Biologia Computacional , Frequência do Gene , Histocompatibilidade , Teste de Histocompatibilidade , Humanos , Doadores de TecidosRESUMO
The immunogenetics research and clinical communities are undergoing a revolution in the way that Human Leukocyte Antigens (HLA) alleles are typed, thanks to the introduction and increasing acceptance of next-generation sequencing into laboratory practice. With the ability to sequence all exons of each allele, instead of the previously routine typing of exons 2 and 3 of class I and exon 2 of class II, the sequencing of previously unsequenced areas of HLA alleles is causing a host of new alleles to be discovered through the course of routine laboratory testing. In the first 4â¯months of routine next generation sequencing, we have identified 10 novel alleles that have been discovered through laboratory testing for all facets of HLA typing, i.e. solid organ transplantation, hematopoietic stem cell transplantation, disease association typing and pharmacogenomics testing. The advent of NGS HLA typing in routine clinical practice, and the concomitant routine typing of exons outside the norm, opens the window for rapid discovery of new HLA alleles and a potential for overwhelming the current HLA nomenclature naming conventions.