高分辨率人类KIR基因分型。

IF 2.9 4区 医学 Q2 GENETICS & HEREDITY Immunogenetics Pub Date : 2022-08-01 Epub Date: 2022-01-20 DOI:10.1007/s00251-021-01247-0
Jonathan Downing, Lloyd D'Orsogna
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引用次数: 7

摘要

杀伤性免疫球蛋白样受体(KIR)通过与细胞表面各种配体的相互作用来调节自然杀伤细胞的功能,从而决定自然杀伤细胞(NK)是被激活还是被抑制,以杀死被询问的细胞。编码这些蛋白的基因通过不同的基因含量、拷贝数和等位基因多态性表现出广泛的变异。KIR基因及其配体的组合涉及多种临床环境,包括造血干细胞和实体器官移植以及传染病的进展。KIR基因的测定已被用作选择最佳干细胞供体的一个因素,受体和供体的单倍型变异会产生不同的临床结果。确定KIR基因的方法主要涉及确定个体中基因的存在或缺失。随着最近大规模平行克隆下一代测序和单分子超长读长第三代测序的引入,高分辨率测定KIR等位基因已经成为可能。确定等位基因变异的程度和功能影响有可能导致进一步优化临床结果,以及更深入地了解受体的功能特性及其与配体的相互作用。本文综述了最近发表的高分辨率KIR基因分型方法,并考虑了所采用方法的各种优点和缺点。此外,还讨论了等位基因分型在移植和传染病控制中的应用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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High-resolution human KIR genotyping.

Killer immunoglobulin-like receptors (KIR) regulate the function of natural killer cells through interactions with various ligands on the surface of cells, thereby determining whether natural killer (NK) cells are to be activated or inhibited from killing the cell being interrogated. The genes encoding these proteins display extensive variation through variable gene content, copy number and allele polymorphism. The combination of KIR genes and their ligands is implicated in various clinical settings including haematopoietic stem cell and solid organ transplant and infectious disease progression. The determination of KIR genes has been used as a factor in the selection of optimal stem cell donors with haplotype variations in recipient and donor giving differential clinical outcomes. Methods to determine KIR genes have primarily involved ascertaining the presence or absence of genes in an individual. With the more recent introduction of massively parallel clonal next-generation sequencing and single molecule very long read length third-generation sequencing, high-resolution determination of KIR alleles has become feasible. Determining the extent and functional impact of allele variation has the potential to lead to further optimisation of clinical outcomes as well as a deeper understanding of the functional properties of the receptors and their interactions with ligands. This review summarizes recently published high-resolution KIR genotyping methods and considers the various advantages and disadvantages of the approaches taken. In addition the application of allele level genotyping in the setting of transplantation and infectious disease control is discussed.

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来源期刊
Immunogenetics
Immunogenetics 医学-免疫学
CiteScore
6.20
自引率
6.20%
发文量
48
审稿时长
1 months
期刊介绍: Immunogenetics publishes original papers, brief communications, and reviews on research in the following areas: genetics and evolution of the immune system; genetic control of immune response and disease susceptibility; bioinformatics of the immune system; structure of immunologically important molecules; and immunogenetics of reproductive biology, tissue differentiation, and development.
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