Lazaro A M, Xiao Y, Masaberg C, Tu B, Ng J, Hurley C K, Posch P E
Department of Pediatrics, C.W. Bill Young Marrow Donor Research and Recruitment Program, Georgetown University Medical Center, Washington, DC 20057, USA.
Tissue Antigens. 2011 Jan;77(1):54-61. doi: 10.1111/j.1399-0039.2010.01558.x. Epub 2010 Sep 22.
Seventy-eight novel human leukocyte antigen (HLA) class I and class II alleles are described: 19 HLA-A alleles, 30 HLA-C alleles, 21 HLA-B alleles, 7 HLA-DRB1 alleles and 1 HLA-DPB1 allele. Eight (∼10%) of the novel alleles were found in more than one individual and may be more common in the population. Sixty-two (∼80%) of the 78 novel alleles are single nucleotide substitution variants when compared with their most homologous allele. Twelve of these single nucleotide variants are silent substitutions and one creates a null allele (C08:26N). One of the novel HLA-C alleles, C03:58, is a hybrid that likely resulted from an intra-locus recombination. The remaining novel alleles differ from their most similar allele by two to seven nucleotide substitutions. Four of the novel HLA-C alleles encode amino acid changes at codons 41, 42, 55 or 200 which have not previously been reported to be polymorphic. Some of the new alleles encode novel codons and unique amino acid changes at polymorphic positions in the HLA-A (codons 55 and 120), HLA-C (codons 151, 153 and 176), HLA-B (codons 31 and 84) and HLA-DRB1 (codon 47) loci.
本文描述了78个新的人类白细胞抗原(HLA)I类和II类等位基因:19个HLA - A等位基因、30个HLA - C等位基因、21个HLA - B等位基因、7个HLA - DRB1等位基因和1个HLA - DPB1等位基因。其中8个(约10%)新等位基因在不止一个个体中被发现,可能在人群中更为常见。与最同源的等位基因相比,78个新等位基因中有62个(约80%)是单核苷酸替代变体。这些单核苷酸变体中有12个是沉默替代,1个产生无效等位基因(C08:26N)。其中一个新的HLA - C等位基因C03:58是一个杂种,可能是由基因座内重组产生的。其余新等位基因与其最相似的等位基因有两到七个核苷酸替代差异。4个新的HLA - C等位基因在密码子41、42、55或200处编码氨基酸变化,此前未报道这些位置具有多态性。一些新等位基因在HLA - A(密码子55和120)、HLA - C(密码子151、153和176)、HLA - B(密码子31和84)和HLA - DRB1(密码子47)基因座的多态性位置编码新的密码子和独特的氨基酸变化。