分子基因组检测方法在罕见病分子诊断中的应用  

Applications of genomic testing in diagnosis of rare diseases

作　　者：王兴娟[1] 陈希[1] 包黎明[1] 

机构地区：[1]重庆医科大学附属儿童医院临床分子医学中心,儿童发育疾病研究教育部实验室,儿科学重庆市重点实验室,重庆市儿童发育重大疾病诊治与预防国际科技合作基地,,400014

出　　处：《中华实用儿科临床杂志》2017年第8期629-631,共3页Chinese Journal of Applied Clinical Pediatrics

摘　　要：罕见病是人群中发病率低或发病人数少的一类疾病，遗传性罕见病占罕见病的80%。罕见病的诊断一直是临床上的难点。现全面介绍分子基因组检测方法，尤其是近几年发展起来的以基因芯片和二代测序为代表的高通量、全基因组的基因组检测技术，比较各检测平台的特点以及如何合理选择基因检测方法诊断罕见病。Rare diseases are a group of diseases with either a low prevalence or affecting a small number of individuals in population.About 80% of rare diseases have genetic etiology and molecular diagnosis of rare diseases remains challenging.This review provides overview on genomic testing platforms with focus on recently developed high throughput, genome-wide methods such as next generation sequencing and chromosome microarray, and highlights the difference among testing platforms and applications in diagnosis of rare diseases.

关 键 词：罕见病 遗传 分子诊断 基因组 二代测序 

分 类 号：R440[医药卫生—诊断学]