高通量测序在遗传性皮肤病中的应用及前景  

Application and Prospect of High-throughput Sequencing in Hereditary Skin Diseases

作　　者：阿苏瑞 刘芳芳[1] 李睿亚 段妍 Asurui;LIU Fang-fang;LI Rui-ya;DUAN Yan(Inner Mongolia Medical University,Hohhot in Inner Mongolia,Huhhot 010059 China;Department of Dermatology,Inner Mongolia Autonomous Region People's Hospital,Huhhot 010017 China)

机构地区：[1]内蒙古医科大学,内蒙古呼和浩特010059 [2]内蒙古自治区人民医院皮肤科,内蒙古呼和浩特010017

出　　处：《内蒙古医学杂志》2019年第10期1183-1185,共3页Inner Mongolia Medical Journal

基　　金：国家自然科学基金项目(编号:81660515)

摘　　要：遗传性皮肤病一直是皮肤病临床诊断、治疗中的难点。据不完全统计,迄今为止,遗传性皮肤病有330多种,其中大多数发病机制仍不明确。目前,高通量测序技术在研究常见遗传性皮肤病突变基因及易感基因,为患者及其家庭提供基因诊断的依据中发挥着关键作用。本文对近些年关于高通量测序在遗传性皮肤病中的应用进展进行分析阐述。Hereditary skin diseases have always been a difficult point in the clinical diagnosis and treatment of skin diseases.According to incomplete statistics,there are more than 330 cases of hereditary skin diseases so far,most of which are still unclear.At present,high-throughput sequencing technology plays a key role in the study of common genetic skin disease mutated genes and susceptibility genes,providing a basis for gene diagnosis for patients and their families.This article analyzes the progress in the application of high-throughput sequencing in hereditary skin diseases in recent years.

关 键 词：高通量测序 皮肤病 

分 类 号：R758.81[医药卫生—皮肤病学与性病学]