在澳大利亚新南威尔士州组织分型实验室发现了新的HLA-A、-B、-C和-DRB1等位基因。

IF 2.2 4区 医学 Q3 IMMUNOLOGY
Human Immunology Pub Date : 2025-09-01 Epub Date: 2025-08-08 DOI:10.1016/j.humimm.2025.111556
Marija Velickovic, Thomas R Turner
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引用次数: 0

摘要

患者和供体之间的HLA相容性是干细胞和实体器官移植成功的决定性因素。然而,由于HLA基因的高度多态性,寻找合适的供体仍然具有挑战性。在这里,我们描述了16个新的HLA-A, -B, -C和-DRB1等位基因在2 年的时间内鉴定。在编码区检测到单核苷酸替换,其中14个与最近的参考等位基因序列不同,13个在抗原识别域外存在多态性(HLA I类外显子2和3,HLA II类外显子2)。两个新的等位基因,一个无义替换和2 bp的缺失导致两个零等位基因,而一个剪接位点的替换导致一个表达状态可疑的等位基因。在HLA配型过程中,特别是在供体选择中,确定HLA等位基因的选择性表达是很重要的。在提交时,其他实验室已经报告了在测试时检测到的另外13个HLA-A, -B, -C和-DRB1等位基因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Novel HLA-A, -B, -C and -DRB1 alleles identified in the Australian New South Wales tissue typing laboratory.

HLA compatibility between patients and donors is a determining factor for the success of stem cell and solid organ transplantations. However, finding suitable donors remains challenging due to the highly polymorphic nature of HLA genes. Here we are describing 16 novel HLA-A, -B, -C and -DRB1 alleles identified over the period of 2 years. Fourteen differed from their closest reference allele sequence by single nucleotide substitutions detected in the coding regions and 13 contained polymorphism outside antigen recognition domains (exons 2 and 3 in class I and exon 2 in HLA class II). Two novel alleles, a non-sense substitution and a deletion of 2 bp resulted in two null alleles, while a substitution in a splice site resulted in an allele with questionable expression status. In HLA matching procedures, particularly in donor selection, it is important to determine alternatively expressed HLA alleles. Thirteen additional HLA-A, -B, -C and -DRB1 alleles detected as novel at the time of testing were already reported by other laboratories by the time of submission.

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来源期刊
Human Immunology
Human Immunology 医学-免疫学
CiteScore
5.40
自引率
7.40%
发文量
107
审稿时长
12 days
期刊介绍: The journal''s scope includes understanding the genetic and functional mechanisms that distinguish human individuals in their immune responses to allografts, pregnancy, infections or vaccines as well as the immune responses that lead to autoimmunity, allergy or drug hypersensitivity. It also includes examining the distribution of the genes controlling these responses in populations. Research areas include: Studies of the genetics, genomics, polymorphism, evolution, and population distribution of immune-related genes Studies of the expression, structure and function of the products of immune-related genes Immunogenetics of susceptibility to infectious and autoimmune disease, and allergy The role of the immune-related genes in hematopoietic stem cell, solid organ, and vascularized composite allograft transplant Histocompatibility studies including alloantibodies, epitope definition, and T cell alloreactivity Studies of immunologic tolerance and pregnancy T cell, B cell, NK and regulatory cell functions, particularly related to subjects within the journal''s scope Pharmacogenomics and vaccine development in the context of immune-related genes Human Immunology considers immune-related genes to include those encoding classical and non-classical HLA, KIR, MIC, minor histocompatibility antigens (mHAg), immunoglobulins, TCR, BCR, proteins involved in antigen processing and presentation, complement, Fc receptors, chemokines and cytokines. Other immune-related genes may be considered. Human Immunology is also interested in bioinformatics of immune-related genes and organizational topics impacting laboratory processes, organ allocation, clinical strategies, and registries related to autoimmunity and transplantation.
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