摘要
发育迟缓/智力残疾(DD/ID)是常见的神经发育障碍性疾病,其病因十分复杂。近年来DD/ID与基因突变的相关性越来越紧密,而且由于其基因型和表型具有明显的遗传异质性,对DD/ID的明确诊断越来越依赖全基因组范围内的分子诊断。目前不明原因的DD/ID分子诊断技术主要是全外显子组测序(WES),尤其由于三人家系(Trios)模式高效、诊断率高、全面分析等优势,三人家系-全外显子组测序(Trio-WES)正逐渐成为临床应用中的主流检测技术。本综述将从Trio-WES技术优势、基因型-表型关联分析和基因新发突变位点的功能研究这三方面入手着重讨论目前Trio-WES在发育迟缓/智力残疾应用中的研究进展。
Developmental delay(DD)and intellectual disability(ID)are common neurodevelopmental disorders and their etiology is very complex.Recently DD/ID is increasingly correlated with gene mutation,and due to the obvious genetic heterogeneity of genotype and phenotype,the clear diagnosis of DD/ID is increasingly dependent on genome-wide molecular diagnosis.Currently,the main molecular diagnostic technique of DD/ID is whole exome sequencing(WES).Trio-WES is becoming a mainstream detection technology in clinical applications because of its advantages,such as high efficiency,high diagnostic rate and comprehensive analysis.In this article the 3 perspectives of advantages of Trio-WES technology,genotype-phenotype relationship analysis and functional research of new mutation sites will be summarized to elaborate the research progress of Trio-WES applications in developmental delay/intellectual disability.
作者
唐巧茵
张莉雪
蒋劲嵩
郭敏
赵晨玥
薛慧琴
TANG Qiaoyin;ZHANG Lixue;JIANG Jinsong;GUO Min;ZHAO Chenyue;XUE Huiqin(Department of Cytogenetic Laboratory,Children’s Hospital of Shanxi,Taiyuan,Shanxi 030013,China;Department of Paediatric Medicine,Shanxi Medical University,Taiyuan,Shanxi 030002,China)
出处
《中国优生与遗传杂志》
2023年第4期881-884,共4页
Chinese Journal of Birth Health & Heredity
基金
国家人口与生殖健康科学数据中心工程项目(2005DKA32408)
山西省“2020年度“四个一批”科技兴医创新计划项目”医学遗传学研究委级重点实验室建设项目(202-0SYS24)
山西省留学人员科技活动择优资助项目(201919)。