HLA最新文献

{"title":"The Novel HLA-B*15:11:08 Allele, Identified by Sanger Dideoxy Nucleotide Sequencing in a Chinese Individual","authors":"Jia-ming Li,&nbsp;Can Lou,&nbsp;Pei-pei Ding,&nbsp;Sheng-yan Luo,&nbsp;Xiao-hong Cai","doi":"10.1111/tan.70138","DOIUrl":"https://doi.org/10.1111/tan.70138","url":null,"abstract":"<div>\u0000 \u0000 <p>The <i>HLA-B*15:11:08</i> allele differs from <i>HLA-B*15:11:01</i> by a single non-synonymous nucleotide change in exon 4.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 3","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143632972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of HLA-B*27:05:02:44 by Next-Generation Sequencing in a North Indian Population","authors":"Samir Agarwal,&nbsp;Shikha Kumari,&nbsp;Nisha Jaiswal,&nbsp;Vineeth Kumar,&nbsp;Rajnesh Kumar","doi":"10.1111/tan.70141","DOIUrl":"https://doi.org/10.1111/tan.70141","url":null,"abstract":"<div>\u0000 \u0000 <p>HLA-B*27:05:02:44 differs from HLA-B*27:05:02:01 by a single nucleotide in intron 1.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 3","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143632867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Novel HLA-A*11:485 Allele, Identified by Sanger Dideoxy Nucleotide Sequencing in a Chinese Individual","authors":"Dong Mei Li,&nbsp;Yuan Yuan Jing,&nbsp;Li Jun Wang,&nbsp;Yan Jun Jia,&nbsp;Tie Cheng Sun","doi":"10.1111/tan.70127","DOIUrl":"https://doi.org/10.1111/tan.70127","url":null,"abstract":"<div>\u0000 \u0000 <p>The HLA-A*11:485 allele differs from HLA-A*11:01:01:01 by one nucleotide substitution in codon 39 in exon 2.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 3","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143632952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Novel HLA-B*51:385 Allele, Identified by Sanger Dideoxy Nucleotide Sequencing in a Chinese Individual","authors":"Hao-yu Hao,&nbsp;Hang Lei,&nbsp;Pei-pei Ding,&nbsp;Sheng-yan Luo,&nbsp;Xiao-hong Cai","doi":"10.1111/tan.70140","DOIUrl":"https://doi.org/10.1111/tan.70140","url":null,"abstract":"<div>\u0000 \u0000 <p>The <i>HLA-B*51:385</i> allele differs from <i>HLA-B*51:285</i> by a single non-synonymous nucleotide change in exon 3.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 3","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143632866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"kir-mapper: A Toolkit for Killer-Cell Immunoglobulin-Like Receptor (KIR) Genotyping From Short-Read Second-Generation Sequencing Data","authors":"Erick C. Castelli,&nbsp;Raphaela Neto Pereira,&nbsp;Gabriela Sato Paes,&nbsp;Heloisa S. Andrade,&nbsp;Marcel Rodrigues Ferreira,&nbsp;Ícaro Scalisse de Freitas Santos,&nbsp;Nicolas Vince,&nbsp;Nicholas R. Pollock,&nbsp;Paul J. Norman,&nbsp;Diogo Meyer","doi":"10.1111/tan.70092","DOIUrl":"https://doi.org/10.1111/tan.70092","url":null,"abstract":"<div>\u0000 \u0000 <p>Killer cell immunoglobulin-like receptors (KIRs) regulate natural killer (NK) cell responses by activating or inhibiting their functions. Genotyping KIR genes from short-read second-generation sequencing data remains challenging as cross-alignments among genes and alignment failure arise from gene similarities and extreme polymorphism. Several bioinformatics pipelines and programs, including PING and T1K, have been developed to analyse KIR diversity. We found discordant results among tools in a systematic comparison using the same dataset. Additionally, they do not provide SNPs in the context of the reference genome, making them unsuitable for whole-genome association studies. Here, we present kir-mapper, a toolkit to analyse KIR genes from short-read sequencing, focusing on detecting KIR alleles, copy number variation, as well as SNPs and InDels in the context of the hg38 reference genome. kir-mapper can be used with whole-genome sequencing (WGS), whole-exome sequencing (WES) and sequencing data generated after probe-based capture methods. It presents strategies for phasing SNPs and InDels within and among genes, reducing the number of ambiguities reported by other methods. We have applied kir-mapper and other tools to data from various sources (WGS, WES) in worldwide samples and compared the results. Using long-read data as a truth set, we found that WGS kir-mapper analyses provided more accurate genotype calls than PING and T1K. For WES, kir-mapper provides more accurate genotype calls than T1K for some genes, particularly highly polymorphic ones (<i>KIR3DL3</i> and <i>KIR3DL2</i>). This comparison highlights that the choice of method has to be considered as a function of the available data type and the targeted genes. kir-mapper is available at the GitHub repository (https://github.com/erickcastelli/kir-mapper/).</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 3","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143632640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of the Novel HLA-A*11:481 Allele by Next-Generation Sequencing","authors":"Zechang Shi,&nbsp;Bin Xi,&nbsp;Jianing Yuan,&nbsp;Xin Li,&nbsp;Mingrui Huo","doi":"10.1111/tan.70125","DOIUrl":"https://doi.org/10.1111/tan.70125","url":null,"abstract":"<div>\u0000 \u0000 <p>The HLA-A*11:481 allele differs from HLA-A*11:01:01:01 by one nucleotide substitution in codon –8 in exon 1.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 3","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143595506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Discovery of the Novel HLA-C*15:02:01:65Q Allele, First Identified in a Brazilian Individual","authors":"Jonathan Pinto,&nbsp;Victoria Mendes-Oliveira,&nbsp;Romulo Vianna,&nbsp;Luís Cristóvão Porto,&nbsp;Danielle Secco","doi":"10.1111/tan.70119","DOIUrl":"https://doi.org/10.1111/tan.70119","url":null,"abstract":"<div>\u0000 \u0000 <p>The novel <i>HLA-C*15:02:01:65Q</i> allele was first described in a potential bone marrow donor from Brazil.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 3","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143594949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterisation of the Novel HLA-DRB5*01:02:05 Allele by Next-Generation Sequencing","authors":"Thibault Pajot,&nbsp;Julien Lion,&nbsp;Vincent Elsermans,&nbsp;Nicolas Guillaume,&nbsp;Judith Desoutter","doi":"10.1111/tan.70137","DOIUrl":"https://doi.org/10.1111/tan.70137","url":null,"abstract":"<div>\u0000 \u0000 <p>HLA-DRB5*01:02:05 differs from the HLA-DRB5*01:02:01 by one synonymous nucleotide in codon 14 in exon 2.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 3","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143595498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of the Novel Allele, HLA-DQB1*05:351, in a Saudi Individual Using Next-Generation Sequencing","authors":"Rafah Bamrdouf,&nbsp;Saber AlZahrani,&nbsp;Manal Alnajjar,&nbsp;Mohammad Awaji,&nbsp;Amani Mohammed","doi":"10.1111/tan.70129","DOIUrl":"https://doi.org/10.1111/tan.70129","url":null,"abstract":"<div>\u0000 \u0000 <p>The novel allele <i>HLA-DQB1*05:351</i> differs from <i>DQB1*05:03:01:01</i> by a single nucleotide substitution in exon 3.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 3","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143594838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Somatic Genomic Alterations in Haematological Tumours Can Interfere With Accurate HLA and Chimerism Diagnostics","authors":"Timo I. Olieslagers,&nbsp;Mathijs Groeneweg,&nbsp;Gwendolyn N. Y. van Gorkom,&nbsp;Erik A. M. Beckers,&nbsp;Lotte Wieten,&nbsp;Christina E. M. Voorter","doi":"10.1111/tan.70093","DOIUrl":"https://doi.org/10.1111/tan.70093","url":null,"abstract":"<p>Tumour cells, which are often found in the peripheral blood of patients with acute leukaemia, may harbour multiple somatic alterations throughout the genome, including changes in the HLA region and short tandem repeat (STR) regions. We investigated whether such somatic alterations interfere with HLA and chimerism diagnostics conducted in preparation for an allogeneic haematopoietic stem cell transplantation (allo-HSCT). This study describes 10 patient-based cases for which laboratory diagnostics were performed prior to a possible stem cell transplant in the Maastricht University Medical Center. In three acute leukaemia patients, somatic alterations were detected within the HLA region in peripheral blood samples: one case showed a complete loss of an HLA haplotype, while two cases exhibited somatic mutations affecting a single HLA class I gene. Additionally, seven patients with haematological malignancies revealed somatic variations within the STR regions, indicated by the presence of a third allele or the partial or complete loss of an allele in pre-transplant peripheral blood samples. In all patients, these somatic variations were confirmed by repeating the tests using buccal swab samples from patients or samples from family members. Furthermore, our study demonstrated that somatic alterations within STR regions used for chimerism testing occurred in 6% of the 176 patients who received an allo-HSCT between 2017 and 2022. This study underscores the clinical relevance of detecting somatic alterations prior to allo-HSCT, as they may interfere with HLA and STR analysis, potentially leading to HLA mistyping or incorrect chimerism detection. Additionally, it highlights the frequency with which genetic changes in tumour cells can affect chimerism diagnostics. The findings emphasise the vital importance of selecting the appropriate sample source for typing purposes and considering the patient's karyotype when choosing STRs, especially when tumour cells are present in the peripheral blood of patients with haematological malignancies.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 3","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/tan.70093","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143595507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}