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2010年常规登记分型过程中鉴定出的新型HLA I类和II类等位基因。

Novel HLA class I and II alleles identified during routine registry typing in 2010.

作者信息

Lazaro A M, Xiao Y, Masaberg C, Hwang W Y K, Yeoh A E J, Weiyan Y, Ng J, Hurley C K, Posch P E

机构信息

Department of Pediatrics, Georgetown University Medical Center, Washington, DC 20057, USA.

出版信息

Tissue Antigens. 2011 Oct;78(4):263-6. doi: 10.1111/j.1399-0039.2011.01728.x. Epub 2011 Jul 5.

DOI:10.1111/j.1399-0039.2011.01728.x
PMID:21729010
Abstract

Twenty-one novel human leukocyte antigen (HLA) class I and class II alleles are described: seven HLA-A alleles, five HLA-C alleles, five HLA-B alleles and four HLA-DRB1 alleles. Seventeen (∼81%) of the 21 novel alleles are single nucleotide substitution variants when compared with their most homologous allele. Nine of these single nucleotide variants cause an amino acid substitution, while eight are silent substitutions. The remaining novel alleles differ from their most similar allele by two to three nucleotide substitutions. One novel HLA-C locus allele encodes an amino acid change at codon 10 that previously has not been reported to be polymorphic for this locus. Some of the new alleles encode novel codons and unique amino acid changes at polymorphic positions in the HLA-A (codons 24 and 156) and HLA-B (codons 40 and 115) loci.

摘要

本文描述了21个新的人类白细胞抗原(HLA)I类和II类等位基因:7个HLA - A等位基因、5个HLA - C等位基因、5个HLA - B等位基因和4个HLA - DRB1等位基因。与最同源的等位基因相比,这21个新等位基因中有17个(约81%)是单核苷酸替代变体。这些单核苷酸变体中有9个导致氨基酸替代,而8个是沉默替代。其余新等位基因与其最相似的等位基因有两到三个核苷酸替代差异。一个新的HLA - C基因座等位基因在第10密码子处编码一个氨基酸变化,此前该基因座尚未报道此多态性。一些新等位基因在HLA - A(第24和156密码子)和HLA - B(第40和115密码子)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。

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