采用高通量测序技术发现、筛查与诊断原发性免疫缺陷病.pdfVIP

·644· 生望塞旦』坠登堕建苤查垫!!堡!旦箜塑鲞签!塑皇!迅!垒E四垦坠垦!堕!!兰笪垫!!!∑型：箜：坠：! ·专家论坛- 采用高通量测序技术发现、筛查与诊断 原发性免疫缺陷病 赵晓东 【摘要】 原发性免疫缺陷病(PID)是一组由单基因突变所致的免疫遗传性疾病。单基因突变导致的免疫 功能变化和疾病临床表型是揭示人体免疫系统工作原理的绝佳模型。由于高通量测序(8TS)技术逐步广泛地 应用于遗传性疾病领域，其在PID新病种及其致病基因发现、PID的人群筛查和临床诊断中的作用越来越受到 关注。现对前期HTS用于PID效果进行简要分析，以使儿科医师了解HTS技术，并能够在临床工作中更加合 理、规范地应用这一新技术，提高我国PID的防治水平。 【关键词】原发性免疫缺陷病；基因突变；遗传诊断；高通量测序 and of diseases diagnosis Identification，screeningprimaryimmunodeficiencybyhighthroughputsequencing Zhao and Medical Xiaodong．DepartmentofNephrologyImmunology，Children’sHospitalofChongqingUniversity， 400014，China Chongqing autho‘：Zhao Corresponding Xiaodong，Emaif：zhaoxd530@aliyun．corn a of dueto disorders mutations 【Abstract】Pfimaryimmunodeficiencydiseases(PID)agegroup monogenic whichresultinincreased tovarious and iSthusconsideredas susceptibilityinfections．autoimmunitymalignanees．PID an modelforhuman excellent reseagch．Inrecent immunology years，highthroughputsequencing(HTS)gradually comesclinicaland a into uses for ofPIDand new revolutionary discover3,of represents techniquescreening，diagnosis for causative PID．Herethisarticlereviewtheinternationalof HewPIDentities genes by emerging experienceidentifying wholeexome andclinicalusesof toscreenand PID． using targeted diagnosis sequencing sequencing 【Keywords】Pfimary diseases；Genemutation；Genetic