{"title":"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。","authors":"Marija Velickovic, Thomas R Turner","doi":"10.1016/j.humimm.2025.111556","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":55047,"journal":{"name":"Human Immunology","volume":"86 5","pages":"111556"},"PeriodicalIF":2.2000,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Novel HLA-A, -B, -C and -DRB1 alleles identified in the Australian New South Wales tissue typing laboratory.\",\"authors\":\"Marija Velickovic, Thomas R Turner\",\"doi\":\"10.1016/j.humimm.2025.111556\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":55047,\"journal\":{\"name\":\"Human Immunology\",\"volume\":\"86 5\",\"pages\":\"111556\"},\"PeriodicalIF\":2.2000,\"publicationDate\":\"2025-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Human Immunology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.humimm.2025.111556\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/8/8 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"IMMUNOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Immunology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.humimm.2025.111556","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/8/8 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"IMMUNOLOGY","Score":null,"Total":0}
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.
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.