遗传性骨病及二代测序技术应用进展

摘要

遗传性骨病虽然罕见,但致畸率、致残率高,严重影响青少年身心健康,需高度关注并尽可能开展恰当的诊疗.遗传性骨病确诊依赖于致病基因突变检测,及早确诊有助于治疗方案的选择和开展遗传咨询、干预等.本文对遗传性骨病背景和分类、致病基因鉴定方法,以及近年推出的二代测序技术在遗传性骨病中应用进展做一阐述,希望对临床医师开展骨病研究有所裨益.%Inherited bone diseases are very rare among population.However,they have an enormous impact on physical and mental health of children because of their high rate of deformity and disability.High attention must be paid to carry out early and accurate diagnosis and treatment.Causative gene mutation detection is critical to the diagnosis of inherited bone disease.Early diagnosis is helpful to treatment option,genetic consultation and genetic intervention.In this paper,we mainly introduced the background,nosology,and mutation detection of inherited bone diseases,as well as the application of next-generation sequencing technology in inherited bone diseases.