Lazaro A M, Henry J, Ng J, Hurley C K, Posch P E
Department of Pediatrics and C.W. Bill Young Marrow Donor Research and Recruitment Program, Georgetown University Medical Center, Washington, DC 20057, USA.
Tissue Antigens. 2012 Jan;79(1):50-7. doi: 10.1111/j.1399-0039.2011.01788.x. Epub 2011 Oct 13.
Seventy-two novel human leukocyte antigen (HLA) class I and class II alleles are described from volunteers for the 'Be The Match Registry®': 17 HLA-A alleles, 12 HLA-C alleles, 31 HLA-B alleles and 12 HLA-DRB1 alleles. Forty-six (≈ 64%) of the 72 novel alleles are single-nucleotide substitution variants when compared with their most homologous allele. Five of these single-nucleotide variants are silent substitutions and one creates a non-expressed allele (B44:108N). The remaining novel alleles differ from their most similar allele by two to five nucleotide substitutions. One of the novel HLA-C alleles (C07:150Q) is of questionable expression due to an insertion of 21 nucleotides starting at codon 143 that adds seven amino acids to exon 3. An inter-locus gene conversion may have created the novel allele HLA-A23:31 that shares its codon differences with HLA-B07:28. Some of the new alleles encode novel codons and unique amino acid changes at polymorphic positions in the HLA-A (codons 116 and 150), HLA-C (codon 114), HLA-B (codons 11, 21, 35, 42, 48, 73, 98 and 170) and HLA-DRB1 (codon 29) loci.
从“成为配型登记处”的志愿者中鉴定出72个新的人类白细胞抗原（HLA）Ⅰ类和Ⅱ类等位基因：17个HLA - A等位基因、12个HLA - C等位基因、31个HLA - B等位基因和12个HLA - DRB1等位基因。与最同源的等位基因相比，这72个新等位基因中有46个（约64%）是单核苷酸替代变体。这些单核苷酸变体中有5个是沉默替代，1个产生了一个不表达的等位基因（B44:108N）。其余新等位基因与其最相似的等位基因存在2至5个核苷酸替代差异。新的HLA - C等位基因之一（C07:150Q）的表达存在疑问，因为从密码子143开始插入了21个核苷酸，这使得外显子3增加了7个氨基酸。基因座间的基因转换可能产生了新等位基因HLA - A23:31，它与HLA - B07:28具有相同的密码子差异。一些新等位基因在HLA - A（密码子116和150）、HLA - C（密码子114）、HLA - B（密码子11、21、35、42、48、73、98和170）和HLA - DRB1（密码子29）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。
