两种新型人类白细胞抗原I类等位基因的鉴定：HLA - A310103和HLA - B9531

Characterization of two novel HLA class I alleles: HLA-A310103 and HLA-B9531.

作者信息

Frison S, Longhi E, Andreini E, Poli F, Scalamogna M

机构信息

Regenerative Medicine Department, Organ and Tissue Transplantation Immunology, Fondazione IRCCS Ospedale Maggiore Policlinico, Milan, Italy.

出版信息

Int J Immunogenet. 2008 Jun;35(3):193-5. doi: 10.1111/j.1744-313X.2008.00761.x. Epub 2008 Feb 28.

DOI:10.1111/j.1744-313X.2008.00761.x

PMID:18312592

Abstract

Two novel human leucocyte antigen (HLA) class I alleles were characterized by means of sequencing-based typing techniques. HLA-A310103 was identified in a cord blood unit from a Caucasoid individual. The sequence of this allele is identical to that of HLA-A310102 except for a silent mutation in exon 3 at position 480 (G --> A). HLA-B9531 was found in a Caucasoid female patient registered on the heart transplantation waiting list in the North Italy Transplant programme. This new variant differs from HLA-B1503 at position 572 (G --> C) in exon 3. This nucleotide change leads to an amino acidic substitution at codon 167 from tryptophan to serine.

摘要

通过基于测序的分型技术鉴定了两个新的人类白细胞抗原（HLA）I类等位基因。在一名高加索个体的脐血单位中鉴定出HLA-A310103。该等位基因的序列与HLA-A310102的序列相同，只是外显子3中第480位发生了沉默突变（G→A）。在意大利北部移植项目的心脏移植等待名单上登记的一名高加索女性患者中发现了HLA-B9531。这个新变体与外显子3中第572位（G→C）的HLA-B1503不同。这种核苷酸变化导致密码子167处的氨基酸从色氨酸替换为丝氨酸。