• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

人类白细胞抗原-A*24:02-B*40:247-C*03:04-DRB1*16:02，一种与台湾个体中低发生率的人类白细胞抗原等位基因B*40:247相关的推测可能的人类白细胞抗原单倍型：病例分析。

Human leukocyte antigen-A*24:02-B*40:247-C*03:04-DRB1*16:02, a deduced probable human leukocyte antigen haplotype associated with a low-incidence human leukocyte antigen allele B*40:247 in Taiwanese individuals: A case analysis.

作者信息

Yang Kuo-Liang, Zheng Zheng-Zhong, Lin Li-Yun

机构信息

Laboratory of Immunogenetics, Tzu Chi Cord Blood Bank and Buddhist Tzu Chi Marrow Donor Registry, Buddhist Tzu Chi Stem Cells Centre, Hualien Tzu Chi Hospital, Hualien, Taiwan.

Department of Laboratory Medicine, Tzu Chi University, Hualien, Taiwan.

出版信息

Tzu Chi Med J. 2018 Apr-Jun;30(2):81-84. doi: 10.4103/tcmj.tcmj_19_18.

DOI:10.4103/tcmj.tcmj_19_18
PMID:29875587
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5968747/
Abstract

OBJECTIVE

HLA-B40:247 is a low incidence allele in the HLA-B locus. The aim of this study is to confirm the ethnicity of B40:247 and its deduced probable HLA- associated haplotype in Taiwanese individuals.

MATERIALS AND METHODS

A total of 2,329 unrelated Taiwanese individuals and 66,212 unrelated mainland Chinese individuals were tested for HLA using a sequence-based typing method. We confirmed the low incidence allele B*40:247 in Taiwanese. Polymerase chain reaction was performed to amplify exons 2, 3 and 4 of the HLA-A and HLA-B loci and exon 2 of the HLA-DRB1 locus using group-specific primer sets. The amplicons were sequenced in both directions with the *BigDye Terminator Cycle Sequencing Ready Reaction Kit according to the manufacturer's protocols.

RESULTS

The DNA sequence of B40:247 is identical to B40:01:01 in exons 2, 3 and 4 except for residue 853, where G of B40:01:01 is changed to A in B40:247 (codon 261, GTA->ATA). The nucleotide replacement causes a one amino acid change at codon 261 where V (valine) of B40:01:01 is replaced by I (isoleucine) in B40:247. We deduced the probable HLA haplotype associated with B40:247 in Taiwanese to be HLA-A24:02-B40:247-C03:04-DRB1*16:02.

CONCLUSION

Information on the ethnicity and distribution of B*40:247 and its deduced probable HLA haplotype in association with the low incidence allele is of value for HLA testing laboratories for reference purposes and can help bone marrow donor registries find compatible donors for patients with this uncommon HLA allele.

摘要

目的

HLA - B40:247是HLA - B基因座中的一个低发生率等位基因。本研究的目的是确定台湾个体中B40:247的种族及其推导的可能的HLA相关单倍型。

材料与方法

使用基于序列的分型方法对总共2329名无关的台湾个体和66212名无关的中国大陆个体进行HLA检测。我们在台湾个体中确认了低发生率等位基因B40:247。使用组特异性引物对进行聚合酶链反应，以扩增HLA - A和HLA - B基因座的外显子2、3和4以及HLA - DRB1基因座的外显子2。根据制造商的方案，使用BigDye Terminator循环测序预混试剂盒对扩增子进行双向测序。

结果

B40:247的DNA序列在第2、3和4外显子中与B40:01:01相同，除了第853位残基，其中B40:01:01的G在B40:247中变为A（密码子261，GTA->ATA）。核苷酸替换导致密码子261处的一个氨基酸变化，其中B40:01:01的V（缬氨酸）在B40:247中被I（异亮氨酸）取代。我们推导台湾个体中与B40:247相关的可能的HLA单倍型为HLA - A24:02 - B40:247 - C03:04 - DRB1*16:02。

结论

关于B*40:247的种族和分布及其推导的与低发生率等位基因相关的可能的HLA单倍型的信息，对HLA检测实验室具有参考价值，有助于骨髓供体登记处为具有这种罕见HLA等位基因的患者找到匹配的供体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4011/5968747/ee45cf71ef9c/TCMJ-30-81-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4011/5968747/6b5aeef375b6/TCMJ-30-81-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4011/5968747/ee45cf71ef9c/TCMJ-30-81-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4011/5968747/6b5aeef375b6/TCMJ-30-81-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4011/5968747/ee45cf71ef9c/TCMJ-30-81-g002.jpg

相似文献

1
Human leukocyte antigen-A*24:02-B*40:247-C*03:04-DRB1*16:02, a deduced probable human leukocyte antigen haplotype associated with a low-incidence human leukocyte antigen allele B*40:247 in Taiwanese individuals: A case analysis.人类白细胞抗原-A*24:02-B*40:247-C*03:04-DRB1*16:02，一种与台湾个体中低发生率的人类白细胞抗原等位基因B*40:247相关的推测可能的人类白细胞抗原单倍型：病例分析。
Tzu Chi Med J. 2018 Apr-Jun;30(2):81-84. doi: 10.4103/tcmj.tcmj_19_18.
2
Human leukocyte antigen-A*33:03-B*58:01-DRB1*15:140, a deduced probable human leukocyte antigen haplotype in association with a human leukocyte antigen low-incidence allele DRB1*15:140 in Taiwanese individuals: A case analysis.人类白细胞抗原-A*33:03-B*58:01-DRB1*15:140，一种推导得出的可能与台湾个体中人类白细胞抗原低发生率等位基因DRB1*15:140相关的人类白细胞抗原单倍型：病例分析。
Tzu Chi Med J. 2019 Jan-Mar;31(1):20-22. doi: 10.4103/tcmj.tcmj_72_18.
3
Deduced probable human leukocyte antigen haplotypes associated with human leukocyte antigen DRB1*04:36 identified by case analysis of Taiwanese individuals.通过对台湾个体的病例分析确定的与人类白细胞抗原DRB1*04:36相关的推导可能人类白细胞抗原单倍型。
Tzu Chi Med J. 2017 Jan-Mar;29(1):12-17. doi: 10.4103/tcmj.tcmj_8_17.
4
A deduced probable HLA-DRB1*16:35-associated HLA haplotype (A*11-B*13-DRB1*16:35) found in a case analysis of two Taiwanese unrelated bone marrow hematopoietic stem cell donors.在对两名台湾非亲属骨髓造血干细胞供者的病例分析中发现了一种推导得出的可能与HLA-DRB1*16:35相关的HLA单倍型（A*11-B*13-DRB1*16:35）。
Tzu Chi Med J. 2016 Jan-Mar;28(1):6-8. doi: 10.1016/j.tcmj.2016.02.001. Epub 2016 Mar 7.
5
Deduced probable HLA-C*07:359-associated human leukocyte antigen haplotypes found by case analysis of Taiwanese unrelated bone marrow hematopoietic stem cell donors.通过对台湾非亲属骨髓造血干细胞供者进行病例分析得出的可能与HLA-C*07:359相关的人类白细胞抗原单倍型。
Tzu Chi Med J. 2016 Apr-Jun;28(2):59-62. doi: 10.1016/j.tcmj.2016.04.004. Epub 2016 May 27.
6
The deduced probable HLA-C*03:187-associated human leukocyte antigen haplotype (A*24:02-B*35:01-C*03:187-DRB1*11:01) revealed in Taiwanese unrelated hematopoietic bone marrow stem cell donors.在台湾非亲属造血骨髓干细胞供者中发现的推断出的可能与HLA-C*03:187相关的人类白细胞抗原单倍型（A*24:02-B*35:01-C*03:187-DRB1*11:01）。
Tzu Chi Med J. 2019 Sep 30;32(3):254-257. doi: 10.4103/tcmj.tcmj_106_19. eCollection 2020 Jul-Sep.
7
Deduced probable human leukocyte antigen haplotypes associated with HLA-A*11:256Q and HLA-A*02:621 identified by case analyses of Taiwanese individuals.通过对台湾个体的病例分析推断出与HLA-A*11:256Q和HLA-A*02:621相关的可能的人类白细胞抗原单倍型。
Tzu Chi Med J. 2017 Oct-Dec;29(4):197-200. doi: 10.4103/tcmj.tcmj_124_17.
8
HLA-A*29:01-B*07:05-C*15:29*DRB1*10:01-DQB1*05:01, a deduced probable human leukocyte antigen haplotype in association with a human leukocyte antigen-C low-incidence allele C*15:29 in Taiwanese individuals.HLA - A*29:01 - B*07:05 - C*15:29*DRB1*10:01 - DQB1*05:01，一种推测可能的人类白细胞抗原单倍型，与台湾个体中一种人类白细胞抗原 - C低发生率等位基因C*15:29相关。
Tzu Chi Med J. 2019 Apr-Jun;31(2):86-89. doi: 10.4103/tcmj.tcmj_111_18.
9
HLA haplotype in association with the low incidence C*07:66 allele found by case analysis of Taiwanese and mainland Chinese individuals.通过对台湾和中国大陆个体的病例分析发现，HLA单倍型与低发病率的C*07:66等位基因相关。
Tzu Chi Med J. 2016 Oct-Dec;28(4):139-142. doi: 10.1016/j.tcmj.2016.09.001. Epub 2016 Nov 10.
10
Association of HLA-C*07:359 with HLA-A, -B, and -DRB1 alleles in Taiwanese.台湾人群中HLA-C*07:359与HLA-A、-B及-DRB1等位基因的关联
Tzu Chi Med J. 2024 Mar 26;36(2):166-174. doi: 10.4103/tcmj.tcmj_288_23. eCollection 2024 Apr-Jun.

本文引用的文献

1
HLA-B*40:247, a novel HLA-B*40 variant, identified by sequence-based typing in a Taiwanese individual.HLA-B*40:247，一种新型 HLA-B*40 变异体，通过序列基型在一名台湾个体中鉴定。
HLA. 2017 Aug;90(2):121-122. doi: 10.1111/tan.13029. Epub 2017 Apr 5.
2
High-Resolution Analyses of Human Leukocyte Antigens Allele and Haplotype Frequencies Based on 169,995 Volunteers from the China Bone Marrow Donor Registry Program.基于中国造血干细胞捐献者资料库项目169995名志愿者的人类白细胞抗原等位基因和单倍型频率的高分辨率分析
PLoS One. 2015 Sep 30;10(9):e0139485. doi: 10.1371/journal.pone.0139485. eCollection 2015.
3
Discovery of the novel HLA-DRB1*10:04 allele in a Taiwanese volunteer bone marrow donor and identification of the probable HLA-A, -B, -C and -DRB1 haplotype in association with DRB1*10:04.
发现一位台湾骨髓捐献志愿者中的新型 HLA-DRB1*10:04 等位基因，并鉴定出与 DRB1*10:04 相关的可能 HLA-A、-B、-C 和-DRB1 单倍型。
Int J Immunogenet. 2012 Oct;39(5):448-50. doi: 10.1111/j.1744-313x.2012.01106.x.
4
Recognition of HLA-A*24:137 allele in a Taiwanese unrelated bone marrow stem cell donor and the plausible HLA haplotype associated with A*24:137.在一位台湾非亲缘骨髓干细胞供者中发现 HLA-A*24:137 等位基因，以及与 A*24:137 相关的可能 HLA 单倍型。
Int J Immunogenet. 2012 Dec;39(6):530-1. doi: 10.1111/j.1744-313X.2012.01134.x. Epub 2012 Jun 6.
5
Identification of the novel HLA allele, HLA-B*40:159, in a Taiwanese hematopoietic stem cell donor and the probable HLA haplotype in an association with B*40:159.鉴定一位台湾造血干细胞捐献者中的新型 HLA 等位基因 HLA-B*40:159 以及与 B*40:159 相关联的可能 HLA 单倍型。
Int J Immunogenet. 2012 Dec;39(6):520-3. doi: 10.1111/j.1744-313X.2012.01130.x. Epub 2012 May 31.
6
Discovery of the novel HLA-DRB1*16:16 allele in a Taiwanese unrelated bone marrow stem cell donor by a sequence-based typing method and the probable haplotype associated with DRB1*16:16.通过序列基分型方法在一位台湾非亲缘骨髓干细胞供者中发现新的 HLA-DRB1*16:16 等位基因及可能与之相关的 DRB1*16:16 单倍型。
Int J Immunogenet. 2012 Oct;39(5):445-7. doi: 10.1111/j.1744-313X.2012.01111.x. Epub 2012 Apr 10.
7
Discovery of the novel HLA-DRB1*03:77 allele in a Taiwanese unrelated hematopoietic stem cell donor by a sequence-based typing method and identification of the probable HLA haplotype in association with DRB1*03:77.通过序列基检测方法发现一位台湾非亲缘造血干细胞供者的新型 HLA-DRB1*03:77 等位基因，并鉴定出与 DRB1*03:77 相关的可能 HLA 单倍型。
Int J Immunogenet. 2012 Oct;39(5):442-4. doi: 10.1111/j.1744-313X.2012.01110.x. Epub 2012 Apr 10.
8
Discovery of a novel HLA-B*51 variant, B*51:112, in a Taiwanese bone marrow donor and identification of the plausible HLA haplotype in association with B*51:112.在一位台湾骨髓捐赠者中发现了一种新型 HLA-B*51 变异体 B*51:112，并鉴定出与 B*51:112 相关的可能 HLA 单倍型。
Int J Immunogenet. 2012 Oct;39(5):451-3. doi: 10.1111/j.1744-313X.2012.01108.x. Epub 2012 Mar 16.
9
Oriental HLA-A*11:90 detected in a Taiwanese cord blood sample and the haplotype in association with A*11:90 allele.在一份台湾脐带血样本中检测到东方 HLA-A*11:90，并发现其与 A*11:90 等位基因相关的单体型。
Int J Immunogenet. 2011 Dec;38(6):543-6. doi: 10.1111/j.1744-313X.2011.01031.x. Epub 2011 Aug 2.
10
The IMGT/HLA database.国际免疫遗传学信息系统/人类白细胞抗原数据库
Nucleic Acids Res. 2011 Jan;39(Database issue):D1171-6. doi: 10.1093/nar/gkq998. Epub 2010 Nov 11.