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Identification of the Novel HLA-DRB1*07:174 Allele by Third-Generation Sequencing. 新型HLA-DRB1*07:174等位基因的第三代测序鉴定
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2026-03-01 DOI: 10.1111/tan.70672
Romain Ferru-Clément, Laetitia Rivière, Pauline Jamain, Isabelle Jollet

HLA-DRB1*07:174 differs from HLA-DRB1*07:01:01:01 by a single nucleotide substitution in codon 112 within exon 3.

HLA-DRB1*07:174与HLA-DRB1*07:01:01:01的区别在于外显子3内密码子112的单核苷酸替换。
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引用次数: 0
Characterisation of the Novel HLA-B*57:200 Allele by Sequencing-Based Typing. 新型HLA-B*57:20 00等位基因的分型分析
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2026-03-01 DOI: 10.1111/tan.70606
Intissar Dalhoumi, Vincent Elsermans, Isabelle Top, Oceane Tenchon, Jonathan Visentin

HLA-B*57:200 differs from HLA-B*57:01:01:01 by one nucleotide substitution in codon 7 in exon 2.

HLA-B*57:20 00与HLA-B*57:01:01:01的差异在于外显子2密码子7的一个核苷酸替换。
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引用次数: 0
Distribution and CWD Categories of HLA-E, -F, -G, -H, MICA and MICB Alleles, as Well as Homozygotes Across 17 Loci in the Chinese Population. HLA-E、-F、-G、-H、MICA和MICB等位基因及纯合子在中国人群17个位点的分布和CWD分类
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2026-03-01 DOI: 10.1111/tan.70620
Yang Li, Tianjie Yang, Xiaoni Yuan, Tengteng Zhang, Xue Jiang, Lingjie Li, Jun He, Xiaojing Bao

Using next-generation sequencing technology, we analysed 17-locus typing data from 10,059 healthy Chinese individuals to establish common and well-documented categories for HLA-E, -F, -G, -H, MICA and MICB alleles. In total, we identified 8 HLA-E, 5 HLA-F, 8 HLA-G, 15 HLA-H, 39 MICA and 27 MICB alleles. Alleles with frequencies greater than 10% included E*01:03, E*01:01, F*01:01, G*01:01, G*01:04, H*01:01, H*02:07, MICA*010:01, MICA*002:01, MICA*008:04, MICA*008:01, MICB*005:02 and MICB*002:01. Among the globally common alleles E*01:03 and E*01:01, E*01:03 was more prevalent than E*01:01 in Chinese and East Asian populations, whereas the opposite pattern was observed in African, European, Admixed American and South Asian populations. Subsequently, we identified 24 types of 17-locus homozygous haplotypes. Although these homozygotes were present in only 0.53% of individuals, their cumulative haplotype frequency reached 12.57%. As the number of loci increased from 3 to 17, the homozygosity carrier rate declined from 1.46% to 0.53%, with a pronounced decrease observed after inclusion of the DPB1 locus. Notably, most of the homozygotes identified in this study had not been reported in the 18th International HLA & Immunogenetics Workshop. For example, 26 of 27 types of 11-locus homozygotes were previously unrecorded. The establishment of a database for HLA-E, -F, -G, -H, MICA and MICB alleles, as well as the distribution of homozygotes in the Chinese population, will provide valuable resources for genetic research, disease susceptibility, transplantation and cell therapy.

利用新一代测序技术，我们分析了来自10059名健康中国人的17个基因座分型数据，建立了HLA-E、-F、-G、-H、MICA和MICB等位基因的共同分类。总共鉴定出8个HLA-E、5个HLA-F、8个HLA-G、15个HLA-H、39个MICA和27个MICB等位基因。频率大于10%的等位基因包括E*01:03、E*01:01、F*01:01、G*01:01、G*01:04、H*01:01、H*02:07、MICA*010:01、MICA*002:01、MICA*008:04、MICA*008:01、MICB*005:02、MICB*002:01。在全球常见等位基因E*01:03和E*01:01中，E*01:03在中国和东亚人群中的流行率高于E*01:01，而在非洲、欧洲、美洲混血儿和南亚人群中则相反。随后，我们鉴定出了24种17位点纯合单倍型。虽然这些纯合子只存在于0.53%的个体中，但它们的累积单倍型频率达到12.57%。随着基因座数从3个增加到17个，纯合载体率从1.46%下降到0.53%，其中包含DPB1位点后，纯合载体率下降明显。值得注意的是，本研究中发现的大多数纯合子未在第18届国际HLA与免疫遗传学研讨会上报道。例如，27种11位点纯合子中有26种以前未被记录。建立中国人群HLA-E、-F、-G、-H、MICA和MICB等位基因及纯合子分布数据库，将为基因研究、疾病易感性、移植和细胞治疗提供宝贵资源。
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引用次数: 0
Characterisation of the Novel HLA-B*44:561Q Allele, With an Amino Acid Deletion in the Transmembrane Domain. 具有跨膜结构域氨基酸缺失的新型HLA-B*44:561Q等位基因的特征
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2026-03-01 DOI: 10.1111/tan.70665
Miguel Angel Moreno-Hidalgo, Raquel Alenda, Iris Vicente, Felix García-Sánchez, Antonio Balas

Characterisation of the novel HLA-B*44:561Q allele.

新型HLA-B*44:561Q等位基因的鉴定。
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引用次数: 0
Characterisation of the Novel HLA-C*03:741 Allele by Next Generation Sequencing. 新HLA-C*03:741等位基因的新一代测序研究
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2026-03-01 DOI: 10.1111/tan.70670
Julien Lion, Ségolène Bartczak, Judith Desoutter, Nicolas Guillaume

HLA-C*03:741 differs from the HLA-C*03:04:01:01 allele by one non-synonymous nucleotide at position 729 in exon 2.

HLA-C*03:74 41与HLA-C*03:04:01等位基因的不同之处在于外显子2第729位有一个非同义核苷酸。
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引用次数: 0
Identification and Characterisation of a New Null Allele: HLA-A*03:528N. 一个新的空等位基因HLA-A*03:528N的鉴定与表征。
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2026-03-01 DOI: 10.1111/tan.70663
Lucia Assunta Longa, Laura Perotti, Maristella Prucca, Serena Mistretta, Paola Maria Manzini

HLA-A*03:528N has a 4-nucleotide duplication in exon 1 that generates a frameshift with a stop codon in exon 2.

HLA-A*03:52 . 28 n在1号外显子有一个4个核苷酸的重复，在2号外显子产生一个带有终止密码子的移码。
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引用次数: 0
Characterisation of the Novel HLA-B*35:08:18 Allele by Sequencing-Based Typing. 新型HLA-B*35:08:18等位基因的分型分析
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2026-03-01 DOI: 10.1111/tan.70650
Lucie Blandin, Marine Cargou, Intissar Dalhoumi, Richard Lemal, Paul Rouzaire

HLA-B*35:08:18 differs from HLA-B*35:08:01:01 by one nucleotide substitution in codon 284 in exon 5.

HLA-B*35:08:18与HLA-B*35:08:01:01在第5外显子密码子284上有一个核苷酸替换。
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引用次数: 0
Characterisation of the Novel HLA-B*37:112N Allele by Next-Generation Sequencing 新HLA-B*37:11 12n等位基因的新一代测序研究
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2026-02-24 DOI: 10.1111/tan.70601
Julien Cliquot, Grégory Gatouillat, Grégory Salez, Marcelle Tonye-Libyh, Delphine Giusti

HLA-B*37:112N differs from HLA-B*37:01:01:01 by a change of one nucleotide substitution in codon 262 in exon 4.

HLA-B*37:112N与HLA-B*37:01:01:01的区别在于外显子第4位密码子262位核苷酸的变化。
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引用次数: 0
Identification of the HLA-DQB1*06:144N Allele by Next-Generation Sequencing HLA-DQB1*06:14 . 44 n等位基因的新一代测序鉴定
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2026-02-24 DOI: 10.1111/tan.70628
Ruby J. Siegel, Katrin Hacke, Rose M. Ridgley, Danielle M. Troop, Andrés Jaramillo

HLA-DQB1*06:144N differs from HLA-DQB1*06:03:01:01 by one nucleotide substitution, introducing a premature stop codon in exon 2.

HLA-DQB1*06:14 . 44 n与HLA-DQB1*06:03:01:01的不同之处在于在外显子2中引入了一个过早终止密码子。
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引用次数: 0
Identification of the Novel HLA-A*24:675 Allele by Next-Generation Sequencing HLA-A*24:675等位基因的新一代测序鉴定
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2026-02-24 DOI: 10.1111/tan.70621
Ruby J. Siegel, Katrin Hacke, Rose M. Ridgley, Danielle M. Troop, Andrés Jaramillo

HLA-A*24:675 differs from HLA-A*24:02:01:01 by one nucleotide substitution in exon 3.

HLA-A*24:675与HLA-A* 24:02:1 01在外显子3上有一个核苷酸替换。
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引用次数: 0
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