人类白细胞抗原基因分型技术平台规范化建设及临床应用专家共识  

Expert consensus on the standardization and clinical application of genotyping for human leukocyte antigens

作　　者：中国输血协会人类组织抗原专业委员会 中华医学会血液学分会 国家血液系统疾病临床医学研究中心 何军[2] 鲍晓晶[3] 陈璐瑶[3] 何军[3] 李杨[3] 袁晓妮[3] 张腾腾 Working Party on Histocompatibility,Chinese Society of Blood Transfusion;The Hematology Branch of the Chinese Medical Association;National Clinical Research Center for Hematologic Diseases;He Jun(不详;Jiangsu Institute of Hematology,the First Affiliated Hospital of Soochow University,Suzhou 215031,China)

机构地区：[1]不详 [2]苏州大学附属第一医院江苏省血液研究所,苏州215031 [3]苏州大学附属第一医院江苏省血液研究所

出　　处：《中华医学杂志》2023年第31期2389-2411,共23页National Medical Journal of China

基　　金：国家自然科学基金(82070180);江苏高校血液学协同创新中心(SX21100121)

摘　　要：人类白细胞抗原(HLA)基因位于人染色体6p21.31区域,占人基因组的1/3000。HLA基因结构复杂,具有多基因性、高度多态性、单体型遗传、连锁不平衡、种族差异性、区域分布性等特征。近年随着HLA基因分型技术的不断创新,对技术平台的规范化建设、临床检测项目性能验证和性能确认方案的实施、检测全流程的质量控制、结果的分析和解读、供者选择的咨询和临床应用等方面都带来新的问题和挑战。本共识结合我国HLA基因分型技术在临床开展的实际情况,系统梳理了HLA基因分型技术平台规范化建设及临床应用中的关键内容。第一部分从人员、仪器设备、试剂和耗材、实验方法学、环境等方面,提出规范化建设HLA分型技术平台的基本要求,介绍了NGS技术检测HLA基因分型性能确认方法及性能指标的选择。第二部分重点阐述HLA基因分型检测前、中、后全流程质量控制的关键点,HLA基因分型结果报告和发布的质量控制,结果解读和信息系统的管理。第三部分重点叙述HLA基因分型的临床咨询和推广应用。在广泛征求国内HLA和移植领域专家的修改意见和反复讨论后定稿,旨在推动HLA基因在医学领域的发展及临床应用。The genes encoding human leukocyte antigens(HLA)are located in the region of 6p21.31 of the human chromosome,accounting for 1/3000 of the human genome.The area is seen as a structurally complex,with the characteristics of multi‑gene inheritance,high polymorphism,haplotype inheritance,linkage disequilibrium,racial diversity,and regional distribution.In recent years,with the continuous innovation of HLA genotyping technology,new issues and challenges have emerged in terms of the standardization of the technology platform,the implementation of the performance validation and verification plan for clinical testing projects,quality control of the entire testing process,analysis and interpretation of results,consultation and selection of donors,and clinical application.This consensus,in combination with the current status of HLA genotyping technology in clinical practice in China,systematically sorts out the key contents in the standardization and clinical application of the HLA genotyping technology platform.The first part proposes the basic requirements for the standardization of the HLA typing technology platform from the perspectives of personnel,instrumentation,reagents and consumables,experimental methods,environmental settings,and introduces the methods and performance indicators for confirming the performance of HLA genotyping with next‑generation sequencing(NGS)technology.The second part elaborates on the key points of quality control during the entire process of HLA genotyping procedure,quality control of result reporting and releasing,and management of result interpretation and bioinformatics systems.The last part describes the clinical consultation and application promotion of HLA genotyping.After widely soliciting revisions and discussions from domestic experts in the field of HLA and transplantation,the consensus aims to promote the development and clinical application of the HLA gene in related medical field.

关 键 词：基因 人类白细胞抗原 分型技术 移植 临床应用 

分 类 号：R440[医药卫生—诊断学]