摘要
罕见病又名"孤儿病",因单病种人群患病率极低、病例分散、临床上欠缺足够关注导致诊治困难。约80%的罕见病是由遗传缺陷引起,精准诊断和治疗罕见病依赖基因水平的检测,从基因角度研究罕见病是目前发展重点。本文从罕见病概况、罕见病的基因诊断技术、基因治疗、胚胎植入前遗传学诊断/筛查技术、产前诊断、新生儿筛查等方面进行综述,旨在从遗传的角度向大家展示罕见病的诊治进展。
Rare diseases,also known as'orphan diseases',are difficult to diagnose and treat because of the extremely low incidence of single diseases and scattered cases.About 80%of rare diseases are caused by genetic defects.Accurate diagnosis and treatment of rare disease-dependent gene levels,and research on rare diseases from a genetic perspective are the focus of current medical research.This article reviews the general situation of rare diseases,gene diagnosis technology of rare diseases,gene therapy,preimplantation genetic diagnosis/screening technology,prenatal diagnosis,neonatal screening and so on,aiming to show the progress of diagnosis and treatment of rare diseases from the perspective of heredity.
作者
王玮
Wang Wei(Department of Reproduction,the Second Hospital of Hebei Medical University,Shijiazhuang050000,China)
出处
《临床荟萃》
CAS
2019年第3期201-206,共6页
Clinical Focus
关键词
少见病
二代测序技术
植入前诊断
基因治疗
rare diseases
second generation sequencing technology
preimplantation diagnosis
gene therapy
