title: Three hundred and seventy-two novel HLA class II alleles identified in potential hematopoietic stem cell donors from Germany, the United States, and Poland.
abstract: We have characterized 372 novel human leukocyte antigen (HLA) class II alleles identified in newly registered stem cell donors, this includes 281 HLA-DRB1 alleles, 89 HLA-DQB1 alleles and 2 HLA-DPB1 alleles. Most novel alleles were single nucleotide variants when compared to their respective most homologous alleles. In 66.4% of all novel alleles non-synonymous nucleotide variations were identified, in 30.4% synonymous substitutions and in 3.2% nonsense mutations. Ninty-three (25.0%) novel alleles were found in several individuals; most often these were novel HLA-DRB1 alleles. Lastly, we underline the importance of recruiting ethnic minority donors in countries such as Germany and the United States, as novel alleles were frequently found among these groups.
authors.affiliation: DKMS German Bone Marrow Donor Center, Tübingen, Germany.
authors.forename: C J
authors.initials: CJ
authors.lastname: Hernández-Frederick
authors.forename: N
authors.initials: N
authors.lastname: Cereb
authors.forename: A S
authors.initials: AS
authors.lastname: Giani
authors.forename: J
authors.initials: J
authors.lastname: Ruppel
authors.forename: A
authors.initials: A
authors.lastname: Maraszek
authors.forename: J
authors.initials: J
authors.lastname: Pingel
authors.forename: J
authors.initials: J
authors.lastname: Sauter
authors.forename: A H
authors.initials: AH
authors.lastname: Schmidt
authors.forename: S Y
authors.initials: SY
authors.lastname: Yang
mesh_terms: D000483:Alleles; D018389:Codon, Nonsense; D005260:Female; D005787:Gene Frequency; D005858:Germany; D059868:HLA-DP beta-Chains / Q000235:genetics*; D059866:HLA-DQ beta-Chains / Q000235:genetics*; D059811:HLA-DRB1 Chains / Q000235:genetics*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D019520:Living Donors; D008297:Male; D011044:Poland; D014481:United States
chemical_list: D018389:Codon, Nonsense; D059868:HLA-DP beta-Chains; C071170:HLA-DPB1 antigen; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D059811:HLA-DRB1 Chains
keywords: genetic diversity; hematopoietic stem cell transplantation; human leukocyte antigens; new alleles; sequencing-based typing