摘要
自闭症是一种多基因遗传、神经系统发育失调引起的广泛性发育障碍,其发病机制不祥,且具有高度临床异质性。自闭症的实验室检测从传统的核型分析到目前的高通量测序技术,同时不断的发现许多相关的致病基因,使得自闭症的检出率有所增高。DNA测序技术的不断发展,为自闭症的潜在遗传病因鉴定奠定了良好的基础,且对未来自闭症的临床诊断及个性化治疗至关重要。
Autism disorder is a widespread developmental disorder caused by polygenic inheritance and nervous system dysplasia.Its pathogenesis is ominous and has high clinical heterogeneity.The laboratory testing of autism from traditional karyotype analysis to current next generation sequencing technology has led to an increase in the detection rate of autism,while constantly discovering many related disease-causing genes.The development of DNA sequencing technology,it has laid a good foundation for the identification of the underlying genetic cause of autism,and it is essential for clinical diagnosis and personalized treatment without autism.
作者
刘帅妹
周青
张瑞金
石慧
林宁
吴玉璘
许豪勤
LIU Shuai-mei;ZHOU Qing;ZHANG Rui-jin(Jiangsu Institute of Planned Parenthood Research,Jiangsu Clinical Laboratory of Reproductive Health,Jiangsu Province,Nanjing 210036,China)
出处
《中国优生与遗传杂志》
2019年第11期1289-1293,共5页
Chinese Journal of Birth Health & Heredity
基金
江苏省计划生育科学技术研究所自主科研项目(省科技厅，BM2018033)，芯片技术在遗传性耳聋基因筛查及宫颈癌标志物研究中的应用研究(省科技厅，BM2018033-3)
关键词
自闭症
高通量测序
临床诊断
Autism disorder
Next generation sequencing
Clinical diagnosis
