Suppr超能文献

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。

HLA haplotype in association with the low incidence C*07:66 allele found by case analysis of Taiwanese and mainland Chinese individuals.

作者信息

Yang Kuo-Liang, Zheng Zheng-Zhong

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, Buddhist Tzu Chi University, Hualien, Taiwan.

出版信息

Tzu Chi Med J. 2016 Oct-Dec;28(4):139-142. doi: 10.1016/j.tcmj.2016.09.001. Epub 2016 Nov 10.

Abstract

OBJECTIVES

HLA-C07:66 is a low-incidence HLA-C allele. The aim of the study is to report the Taiwanese and mainland Chinese ethnicities of individuals with C07:66, together with its uniqueness and polymorphism.

MATERIALS AND METHODS

A sequence-based typing method was employed to confirm this low-incidence allele. Polymerase chain reaction was performed to amplify exons 2, 3, and 4 of the HLA-A, HLA-B, and HLA-C loci and exon 2 of the HLA-DRB1 and HLA-DQB1 loci using group-specific primer sets. The amplicons were sequenced in both directions using BigDye Terminator Cycle Sequencing Ready Reaction kit. The blood donors in this study consisted of randomized Taiwanese and mainland Chinese individuals and family members with the C*07:66 allele.

RESULTS

The DNA sequence of C07:66 is identical to that of C07:02:01:01 for exons 2, 3, and 4, except for residue 688 in exon 4. This nucleotide substitution causes a single amino acid alteration to the protein sequence of C07:02:01:01. Confirmation of the DNA and protein sequences of C07:66 and the Taiwanese and mainland Chinese ethnicities of individuals with this allele were established in this study. One probable HLA C*07:66-associated HLA haplotype may be deduced from these individuals.

CONCLUSION

The information on the ethnicity of the C07:66 allele and the deduced probable HLA haplotype associated with the low-incidence C07:66 allele reported in this study may aid in HLA testing laboratories for reference purposes. In addition, they can be used by stem cell transplant donor search coordinators to help create, for patients bearing this uncommon HLA allele, strategies for finding compatible donors using bone marrow donor registries comprising unrelated individuals.

摘要

目的

HLA - C07:66是一种低发生率的HLA - C等位基因。本研究旨在报告携带C07:66的个体的台湾和中国大陆种族情况,以及其独特性和多态性。

材料与方法

采用基于序列的分型方法来确认这种低发生率的等位基因。使用组特异性引物对进行聚合酶链反应,以扩增HLA - A、HLA - B和HLA - C基因座的外显子2、3和4以及HLA - DRB1和HLA - DQB1基因座的外显子2。使用BigDye Terminator循环测序预混试剂盒对扩增子进行双向测序。本研究中的献血者包括随机选取的携带C*07:66等位基因的台湾和中国大陆个体及家庭成员。

结果

C07:66的DNA序列在外显子2、3和4上与C07:02:01:01相同,除了外显子4中的第688位残基。这种核苷酸替换导致C07:02:01:01的蛋白质序列发生单个氨基酸改变。本研究确定了C07:66的DNA和蛋白质序列以及携带该等位基因的个体的台湾和中国大陆种族情况。从这些个体中可以推断出一种可能与HLA C*07:66相关的HLA单倍型。

结论

本研究报告的C07:66等位基因的种族信息以及推断出的与低发生率C07:66等位基因相关的可能HLA单倍型,可能有助于HLA检测实验室作为参考。此外,干细胞移植供体搜索协调员可以利用这些信息,为携带这种罕见HLA等位基因的患者制定策略,以便在包含无关个体的骨髓供体登记处中寻找匹配的供体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdec/5442898/c7b2ded44925/TCMJ-28-139-g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验