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分子诊断实验室中的 HLA 检测。

HLA testing in the molecular diagnostic laboratory.

机构信息

Department of Pathology, University of New Mexico, MSC08 4640, Reginald Heber Fitz Hall, Room 335, 1 University of New Mexico, 87131, Albuquerque, NM, Mexico.

出版信息

Virchows Arch. 2019 Feb;474(2):139-147. doi: 10.1007/s00428-018-2501-3. Epub 2018 Dec 4.

Abstract

The human leukocyte antigen (HLA) system is a highly polymorphic family of genes involved in immunity and responsible for identifying self versus non-self. HLA typing is essential for solid organ and bone marrow transplantation as well as in non-transplant settings such as disease association and pharmacogenomics. Typing of HLA genes differs from most molecular testing as, rather than evaluating differences from an accepted "wild-type" gene, it must distinguish between thousands of similar, but distinct alleles. This article will describe the HLA system and nomenclature. We will then discuss clinical uses of HLA typing including solid organ transplantation, hematopoietic stem cell transplantation, evaluation of platelet refractory patients, disease association, and pharmacogenetics. Finally, we describe common molecular methods of HLA typing.

摘要

人类白细胞抗原(HLA)系统是一个高度多态性的基因家族,参与免疫反应,并负责识别自我与非自我。HLA 分型对于实体器官和骨髓移植以及非移植环境(如疾病关联和药物基因组学)至关重要。HLA 基因分型与大多数分子检测不同,因为它不是评估与公认的“野生型”基因的差异,而是必须区分数千个相似但不同的等位基因。本文将描述 HLA 系统和命名法。然后,我们将讨论 HLA 分型的临床应用,包括实体器官移植、造血干细胞移植、血小板抵抗患者的评估、疾病关联和药物遗传学。最后,我们描述了 HLA 分型的常见分子方法。

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