中国当代儿科杂志
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CN 43-1301/R
 
中国当代儿科杂志  2020, Vol. 22 Issue (10): 1138-1142    DOI:10.7499/j.issn.1008-8830.2005004
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转录组测序在孟德尔遗传病临床诊断中的应用进展
肖慧, 周文浩
1. 复旦大学附属儿科医院新生儿科, 上海 201102;
2. 上海市出生缺陷防治重点实验室/复旦大学儿童发育与疾病转化医学研究中心/卫生部新生儿疾病重点实验室/复旦大学附属儿科医院, 上海 201102
Application of RNA sequencing in clinical diagnosis of Mendelian disease
XIAO Hui, ZHOU Wen-Hao
Department of Neonatology, Children's Hospital, Fudan University, Shanghai 201102, China
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摘要 

目前常用基因panel和全外显子组测序(whole exome sequencing)检测孟德尔遗传病,但DNA测序诊断率仅35%~50%。近年来,转录组测序(RNA sequencing)这一技术不断发展,不仅具有检测新致病变异、分析等位基因特异性表达等优势,有望促进了解疾病基因型与表型的关系,还可与基因组测序优势互补,拓展孟德尔遗传病传统的基因组的诊断手段,有望成为诊断孟德尔遗传病的常规工具。该文对转录组测序在孟德尔遗传病临床诊断中的应用进展进行综述。

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肖慧
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关键词 孟德尔遗传病转录组测序突变    
Abstract:Gene panel and whole exome sequencing are now commonly used to detect Mendelian disease, but the current molecular diagnostic rate of DNA sequencing is only 35%-50%. In recent years, RNA sequencing emerges as a promising diagnostic method. It can detect new pathogenic mutations, and analyze allele-specific expression. This will be helpful to understand the relationship between disease genotype and phenotype, and can complement genome sequencing in order to expand the traditional genomic diagnostic methods of Mendelian disease. RNA sequencing is expected to become a routine tool for diagnosing Mendelian diseases. This article reviews the application of RNA sequencing in the clinical diagnosis of Mendelian disease.
Key wordsMendelian disease    RNA sequencing    Mutation   
收稿日期: 2020-05-01     
通讯作者: 周文浩,男,主任医师。Email:zhouwenhao@fudan.edu.cn。     E-mail: zhouwenhao@fudan.edu.cn
作者简介: 肖慧,女,博士研究生。
引用本文:   
肖慧,周文浩. 转录组测序在孟德尔遗传病临床诊断中的应用进展[J]. 中国当代儿科杂志, 2020, 22(10): 1138-1142.
XIAO Hui,ZHOU Wen-Hao. Application of RNA sequencing in clinical diagnosis of Mendelian disease[J]. CJCP, 2020, 22(10): 1138-1142.
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