title: Detection of 549 new HLA alleles in potential stem cell donors from the United States, Poland and Germany.
abstract: We characterized 549 new human leukocyte antigen (HLA) class I and class II alleles found in newly registered stem cell donors as a result of high-throughput HLA typing. New alleles include 101 HLA-A, 132 HLA-B, 105 HLA-C, 2 HLA-DRB1, 89 HLA-DQB1 and 120 HLA-DPB1 alleles. Mainly, new alleles comprised single nucleotide variations when compared with homologous sequences. We identified nonsynonymous nucleotide mutations in 70.7% of all new alleles, synonymous variations in 26.4% and nonsense substitutions in 2.9% (null alleles). Some new alleles (55, 10.0%) were found multiple times, HLA-DPB1 alleles being the most frequent among these. Furthermore, as several new alleles were identified in individuals from ethnic minority groups, the relevance of recruiting donors belonging to such groups and the importance of ethnicity data collection in donor centers and registries is highlighted.
authors.affiliation: DKMS German Bone Marrow Donor Center, Tübingen, Germany.
authors.forename: C J
authors.initials: CJ
authors.lastname: Hernández-Frederick
authors.affiliation: HistoGenetics Inc., Ossining, NY, USA.
authors.forename: N
authors.initials: N
authors.lastname: Cereb
authors.affiliation: DKMS German Bone Marrow Donor Center, Tübingen, Germany.
authors.forename: A S
authors.initials: AS
authors.lastname: Giani
authors.affiliation: Delete Blood Cancer DKMS US, New York, NY, USA.
authors.forename: J
authors.initials: J
authors.lastname: Ruppel
authors.affiliation: DKMS Polska, Warsaw, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Maraszek
authors.affiliation: DKMS German Bone Marrow Donor Center, Tübingen, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Pingel
authors.affiliation: DKMS German Bone Marrow Donor Center, Tübingen, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Sauter
authors.affiliation: DKMS German Bone Marrow Donor Center, Tübingen, Germany.
authors.forename: A H
authors.initials: AH
authors.lastname: Schmidt
authors.affiliation: HistoGenetics Inc., Ossining, NY, USA.
authors.forename: S Y
authors.initials: SY
authors.lastname: Yang
mesh_terms: D000483:Alleles; D005006:Ethnicity; D015870:Gene Expression; D005787:Gene Frequency; D056426:Genetic Loci; D005858:Germany; D006680:HLA Antigens / Q000145:classification / Q000235:genetics* / Q000276:immunology; D006801:Humans; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D020033:Protein Isoforms / Q000145:classification / Q000235:genetics / Q000276:immunology; D033581:Stem Cell Transplantation; D013234:Stem Cells / Q000166:cytology / Q000276:immunology*; D014019:Tissue Donors; D014481:United States
chemical_list: D006680:HLA Antigens; D020033:Protein Isoforms
keywords: genetic diversity; hematopoietic stem cell transplantation; human leukocyte antigens; new alleles; next-generation sequencing; sequencing-based typing
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