摘要
单基因遗传病(monogenic disease)指由单个或单对等位基因突变导致的疾病,一般遵循孟德尔遗传规律,传统的单基因遗传病诊断通常依赖于系谱分析、生化、影像等手段。近年来,分子诊断技术特别是高通量测序技术已经成为单基因遗传病的主要诊断手段,对单基因遗传病的明确诊断、预防和指导治疗发挥着越来越重要的作用。本文对40多年来单基因遗传病分子诊断技术的发展进行回顾,介绍其最新进展,并展望其在单基因遗传病未来的研究进展。
Monogenic diseases refer to diseases caused by a single gene or a single allele mutation that can be readily explained by mendelian inheritance. Traditional genetic diagnosis of monogenic diseases usually depends on pedigree analysis, biochemical, imaging, etc. In recent years, molecular diagnostic tech- niques, especially high-throughput sequencing technology, have become the primary diagnostic tool for mono- genic diseases. These molecular techniques play an increasingly significant role in the diagnosis, prevention and treatment of monogenic diseases. In this review, the developments of molecular diagnostic techniques over the past 40 years in the context of monogenic diseases will be discussed, and the latest progress and its prospect on future research will be introduced.
出处
《分子诊断与治疗杂志》
2018年第2期73-77,84,共6页
Journal of Molecular Diagnostics and Therapy
基金
2016年度河南省产学研合作项目(162107000017)
关键词
单基因遗传病
分子诊断
高通量测序
Monogenic disease
Molecular diagnostics
High-throughput sequencing
