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Detection of the HLA-B*15:88 Allele in a Taiwanese Individual 台湾人HLA-B*15:88等位基因的检测
IF 5.9 4区 医学
HLA Pub Date : 2025-04-30 DOI: 10.1111/tan.70216
Kuo-Liang Yang, Py-Yu Lin
{"title":"Detection of the HLA-B*15:88 Allele in a Taiwanese Individual","authors":"Kuo-Liang Yang,&nbsp;Py-Yu Lin","doi":"10.1111/tan.70216","DOIUrl":"https://doi.org/10.1111/tan.70216","url":null,"abstract":"<div>\u0000 \u0000 <p>Two nucleotide substitutions in codon 152 of <i>HLA-B*15:02:01:01</i> result in a novel allele, <i>HLA-B*15:88</i>.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 5","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143889098","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}
引用次数: 0
Genomic Full-Length Sequence of the HLA-DRB1*13:97:01 Allele Was Identified by PacBio Sequencing 采用PacBio测序技术鉴定HLA-DRB1*13:97:01等位基因的基因组全长序列
IF 5.9 4区 医学
HLA Pub Date : 2025-04-30 DOI: 10.1111/tan.70200
Xiaoyun Chi, Zhi Jiang, Li Liu, Bin Han, Shuxian Jiao, Shutao Pang
{"title":"Genomic Full-Length Sequence of the HLA-DRB1*13:97:01 Allele Was Identified by PacBio Sequencing","authors":"Xiaoyun Chi,&nbsp;Zhi Jiang,&nbsp;Li Liu,&nbsp;Bin Han,&nbsp;Shuxian Jiao,&nbsp;Shutao Pang","doi":"10.1111/tan.70200","DOIUrl":"https://doi.org/10.1111/tan.70200","url":null,"abstract":"<div>\u0000 \u0000 <p>The complete genomic sequence of HLA-DRB1*13:97:01 was determined using a PacBio sequencing approach conducted in China.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 5","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143888945","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}
引用次数: 0
Identification of the Novel HLA-DRB1*08:03:16 Allele by Next-Generation Sequencing 新HLA-DRB1*08:03:16等位基因的新一代测序鉴定
IF 5.9 4区 医学
HLA Pub Date : 2025-04-29 DOI: 10.1111/tan.70199
Zhipan Wu, Ji He, Yanmin He, Wei Zhang, Faming Zhu
{"title":"Identification of the Novel HLA-DRB1*08:03:16 Allele by Next-Generation Sequencing","authors":"Zhipan Wu,&nbsp;Ji He,&nbsp;Yanmin He,&nbsp;Wei Zhang,&nbsp;Faming Zhu","doi":"10.1111/tan.70199","DOIUrl":"https://doi.org/10.1111/tan.70199","url":null,"abstract":"<div>\u0000 \u0000 <p>HLA-DRB1*08:03:16 differs from HLA-DRB1*08:03:02:01 by one nucleotide substitution at position 528 G&gt;T.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 4","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143888889","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}
引用次数: 0
Characterisation of the Novel HLA-B*48:43:02 Allele in a Chinese Individual 中国人HLA-B*48:43:02等位基因的特征分析
IF 5.9 4区 医学
HLA Pub Date : 2025-04-24 DOI: 10.1111/tan.70194
Nanying Chen, Chen Chen, Fang Wang, Wei Zhang, Faming Zhu
{"title":"Characterisation of the Novel HLA-B*48:43:02 Allele in a Chinese Individual","authors":"Nanying Chen,&nbsp;Chen Chen,&nbsp;Fang Wang,&nbsp;Wei Zhang,&nbsp;Faming Zhu","doi":"10.1111/tan.70194","DOIUrl":"https://doi.org/10.1111/tan.70194","url":null,"abstract":"<div>\u0000 \u0000 <p>HLA-B*48:43:02 differs from HLA-B*48:43:01 by one single nucleotide substitution at position 900 G&gt;C in exon 5.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 4","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865833","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}
引用次数: 0
Discovery of an HLA-B*35 Null Variant, HLA-B*35:636N in Two Unrelated Individuals HLA-B*35零变异HLA-B*35:636N在两个无亲缘关系个体中的发现
IF 5.9 4区 医学
HLA Pub Date : 2025-04-24 DOI: 10.1111/tan.70214
Maria Loginova, Olga Makhova, Igor Paramonov
{"title":"Discovery of an HLA-B*35 Null Variant, HLA-B*35:636N in Two Unrelated Individuals","authors":"Maria Loginova,&nbsp;Olga Makhova,&nbsp;Igor Paramonov","doi":"10.1111/tan.70214","DOIUrl":"https://doi.org/10.1111/tan.70214","url":null,"abstract":"<div>\u0000 \u0000 <p>Characterisation of the novel HLA-B*35:636N allele in two bone marrow donors from the Russian State Registry.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 4","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143871772","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}
引用次数: 0
Cost-Effective and Highly Scalable Typing of HLA Classes I and II Genes of up to 96 Individuals Using Nanopore Sequencing 使用纳米孔测序对多达96个人的HLA I类和II类基因进行高成本效益和高度可扩展的分型
IF 5.9 4区 医学
HLA Pub Date : 2025-04-24 DOI: 10.1111/tan.70164
Frederikke Byron Pedersen, Anne Werner Hauge, Jacob Flemming Hansen, Laura Studnitz Andersen, Signe Blomsterberg, Helle Bruunsgaard
{"title":"Cost-Effective and Highly Scalable Typing of HLA Classes I and II Genes of up to 96 Individuals Using Nanopore Sequencing","authors":"Frederikke Byron Pedersen,&nbsp;Anne Werner Hauge,&nbsp;Jacob Flemming Hansen,&nbsp;Laura Studnitz Andersen,&nbsp;Signe Blomsterberg,&nbsp;Helle Bruunsgaard","doi":"10.1111/tan.70164","DOIUrl":"https://doi.org/10.1111/tan.70164","url":null,"abstract":"<div>\u0000 \u0000 <p>HLA typing of large donor registries and biobanks as well as acute single patient/donor samples remains expensive, slow and logistically challenging, despite recent developments in the field. We have tested and validated a cost-effective, accurate and highly scalable method for typing specific genes in the HLA region. This enables HLA typing from 1 to 96 individuals simultaneously, using a targeted PCR and Native Barcoding kit from Oxford Nanopore Technologies. A primer set for seven HLA genes (HLA-A, -B, -C, -DRB1, -DQA1, -DQB1 and -DPB1) was developed to work in a multiplex PCR reaction. The resulting amplicons provide a possible four-field resolution of the HLA Class I genes and G-group resolution of the HLA Class II genes. The entire process, from DNA to HLA typing result, takes a total of 5.5–10.5 h depending on the number of samples processed simultaneously. Data analysis was conducted using NGSEngine-Turbo from GenDx (Utrecht, The Netherlands), with analysis time ranging from 1 to 5 min per sample. Samples from 96 Danish registered stem cell donors were typed using this method. One allele out of 1128 analysed alleles was inaccurately called homozygous, leading to an accuracy of 99.91%. The rapid turnaround, low cost and high accuracy make this new method highly relevant for HLA typing of large biobanks and donor registries, as well as for acute single samples. HLA typing can be obtained within 1 day, with a cost per sample of approximately €7 when 96 samples are sequenced simultaneously.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 4","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/tan.70164","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865832","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}
引用次数: 0
Identification of Five New HLA-B Silent Variants by Next-Generation Sequencing 新一代测序技术鉴定5种新的HLA-B沉默变异
IF 5.9 4区 医学
HLA Pub Date : 2025-04-24 DOI: 10.1111/tan.70206
Maria Loginova, Julia Dudina, Igor Paramonov
{"title":"Identification of Five New HLA-B Silent Variants by Next-Generation Sequencing","authors":"Maria Loginova,&nbsp;Julia Dudina,&nbsp;Igor Paramonov","doi":"10.1111/tan.70206","DOIUrl":"https://doi.org/10.1111/tan.70206","url":null,"abstract":"<div>\u0000 \u0000 <p>Five novel HLA-B silent variants, HLA-B*08:01:81, HLA-B*18:01:59, HLA-B*35:01:82, HLA-B*35:03:45, and HLA-B*51:17:02, were detected by next-generation sequencing.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 4","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865835","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}
引用次数: 0
Identification of the Nine Novel HLA-B Alleles in Individuals From Russia 俄罗斯人9种新型HLA-B等位基因的鉴定
IF 5.9 4区 医学
HLA Pub Date : 2025-04-24 DOI: 10.1111/tan.70204
Maria Loginova, Nadezhda Morozova, Igor Paramonov
{"title":"Identification of the Nine Novel HLA-B Alleles in Individuals From Russia","authors":"Maria Loginova,&nbsp;Nadezhda Morozova,&nbsp;Igor Paramonov","doi":"10.1111/tan.70204","DOIUrl":"https://doi.org/10.1111/tan.70204","url":null,"abstract":"<div>\u0000 \u0000 <p>Nine novel HLA-B alleles were detected during the routine HLA typing process.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 4","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865834","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}
引用次数: 0
The Novel HLA-B*40:01:92 Allele Identified in Patient and His Related Donor 新HLA-B*40:01:92等位基因在患者及其相关供体中的鉴定
IF 5.9 4区 医学
HLA Pub Date : 2025-04-24 DOI: 10.1111/tan.70213
Maria Loginova, Igor Paramonov, Julia Fedyukova
{"title":"The Novel HLA-B*40:01:92 Allele Identified in Patient and His Related Donor","authors":"Maria Loginova,&nbsp;Igor Paramonov,&nbsp;Julia Fedyukova","doi":"10.1111/tan.70213","DOIUrl":"https://doi.org/10.1111/tan.70213","url":null,"abstract":"<div>\u0000 \u0000 <p>The novel HLA-B*40:01:92 allele differs from B*40:01:01:01 by a change of C → A in exon 5.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 4","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865826","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}
引用次数: 0
Evaluating the Antigen and Eplet Accuracy of DQA1 Imputations With the HaploSFHI Two-Field HLA Typing Inference Tool 用HaploSFHI双场HLA分型推断工具评估DQA1抗原和等位基因的准确性
IF 5.9 4区 医学
HLA Pub Date : 2025-04-23 DOI: 10.1111/tan.70197
Romain Lhotte, Cathi Murphey, Sandra Tafulo, David Turner, Cédric Usureau, Magali Devriese, SFHI Consortium, Véronique Letort, Jean-Luc Taupin
{"title":"Evaluating the Antigen and Eplet Accuracy of DQA1 Imputations With the HaploSFHI Two-Field HLA Typing Inference Tool","authors":"Romain Lhotte,&nbsp;Cathi Murphey,&nbsp;Sandra Tafulo,&nbsp;David Turner,&nbsp;Cédric Usureau,&nbsp;Magali Devriese,&nbsp;SFHI Consortium,&nbsp;Véronique Letort,&nbsp;Jean-Luc Taupin","doi":"10.1111/tan.70197","DOIUrl":"https://doi.org/10.1111/tan.70197","url":null,"abstract":"<p>Donor/recipient mismatched HLA antigens can lead to the production of Donor-Specific Antibodies by the recipient, which are deleterious to organ transplants. The HLA-DQ locus is the most frequent target, with both the DQ beta and alpha chains involved. For deceased donors in particular, while HLA-DQB1 has been typed in emergencies for a long time, HLA-DQA1 has only recently been included. No imputation algorithmic tool was available to impute HLA-DQA1 until the development of HaploSFHI, trained on 61,393 two-field typings by NGS methods. We evaluated the accuracy of two-field HLA-DQA1 imputation from serological and two-field level HLA-A, B, DRB1, and DQB1 typings. We report a highly accurate two-field HLA-DQA1 prediction using a French test cohort of 7696 individuals, respectively reaching 92.30% and 96.45% accuracy. The average ‘False Positive eplet load’ stood at 0.19 and 0.07, respectively, and the average ‘False Negative eplet load’ at 0.18 and 0.08, respectively. A similar performance was obtained on three independent test cohorts of European ancestry (from the USA, the UK, and Portugal). Interestingly, performance was only slightly inferior on five independent test cohorts of other ethnicities (from Hong Kong and the USA) whereas it was significantly lower for two-field DRB1 imputation from its serological level. These results suggest that DQA1 can reliably be imputed even when information is totally missing, with low error risk at both antigen and eplet levels, even if the reference population is not matched. Similar additional initiatives would be welcome to confirm these findings.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"105 4","pages":""},"PeriodicalIF":5.9,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/tan.70197","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865658","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}
引用次数: 0
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