转录组测序在孟德尔遗传病临床诊断中的应用进展

Application of RNA sequencing in clinical diagnosis of Mendelian disease

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。

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.