基于序列的骨髓供体/受体对的HLA高分辨率重新分型揭示了新的HLA等位基因DQB1*0322。

Sequence-based HLA high-resolution retyping of a bone marrow donor/recipient pair reveals the novel HLA allele DQB1*0322.

作者信息

Witter K, Lochmann E, Vecchiato C, Albert T, Zahn R, Kauke T

机构信息

Laboratory of Immunogenetics, Department of Transfusion Medicine and Haemostaseology, Clinic for Anesthesiology, University Clinic Munich, Ludwig-Maximilians-University, Munich, Germany.

出版信息

Tissue Antigens. 2009 Mar;73(3):283-5. doi: 10.1111/j.1399-0039.2008.01201.x.

DOI:10.1111/j.1399-0039.2008.01201.x

PMID:19254265

Abstract

In this paper, we characterize the novel human leukocyte antigen (HLA)-DQB10322. We found this novel allele in a hematopoietic stem cell donor. The donor and the recipient were high-resolution HLA retyped using sequence-based typing. Both, the female patient and her donor were previously typed HLA identical, which was confirmed with the exception of the novel DQB1 allele. The novel allele is characterized by a nucleotide exchange 'G' to 'A' at position 485 in exon 3. This affected codon 130-arginine (CGG), which is replaced by glutamine (CAG) in the new allele DQB10322. The transplant was performed because of an acute myeloid leukemia at first remission.

摘要

在本文中，我们对新型人类白细胞抗原（HLA）-DQB10322进行了特征描述。我们在一名造血干细胞供者中发现了这个新型等位基因。使用基于序列的分型方法对供者和受者进行了高分辨率HLA重新分型。女性患者及其供者之前的HLA分型显示为相同，但新型DQB1等位基因除外，这一点得到了证实。该新型等位基因的特征是外显子3中第485位核苷酸由“G”替换为“A”。这影响了密码子130（精氨酸，CGG），在新等位基因DQB10322中被谷氨酰胺（CAG）取代。该移植手术是由于急性髓系白血病首次缓解期而进行的。