人类新生突变的起源、特征及其对子代健康的影响  

The Origin and Characteristics of De Novo Mutations in Human and Its Impact on Offspring Health

作　　者：周俊[1,2] 朱佳雯 王铖 胡志斌[1,2] ZHOU Jun;ZHU Jiawen;WANG Cheng;HU Zhibin(State Key Laboratory of Reproductive Medicine and Offspring Health,Nanjing Medical University,Nanjing 211166,China;Department of Epidemiology,School of Public Health,Nanjing Medical University,Nanjing 211166,China;Department of Bioinformatics,School of Biomedical Engineering and Informatics,Nanjing Medical University,Nanjing 211166,China)

机构地区：[1]南京医科大学生殖医学与子代健康全国重点实验室,南京211166 [2]南京医科大学公共卫生学院流行病学系,南京211166 [3]南京医科大学生物医学工程与信息学院生物信息学系,南京211166

出　　处：《中国细胞生物学学报》2024年第4期811-825,共15页Chinese Journal of Cell Biology

基　　金：国家自然科学基金优秀青年科学基金项目(批准号:82322032);国家自然科学基金创新研究群体项目(批准号:82221005);国家重点研发计划(批准号:2021YFC2700601);江苏省杰出青年基金项目(批准号:BK20220050)资助的课题。

摘　　要：除来自祖先的遗传变异外,人类还携带了每一世代新产生的突变,即新生突变。近年来,基于“父-母-子代”核心家系设计的高通量测序研究初步解析了这些新生突变的起源和特征,并且发现新生突变是多种疾病(例如神经发育障碍、先天性心脏病等)发生的重要原因。因此,该文就人类新生突变的起源、特征以及对子代健康的影响进行综述,以期为新生突变的进一步研究提供思路。In addition to genetic variations inheriting from ancestry,humans carry novel mutations that arise in each generation,known as de novo mutations.In recent years,high-throughput sequencing studies based on trios-design(“father-mother-offspring”)have preliminarily elucidated the origin and characteristics of de novo mutations.It has been discovered that de novo mutations play a significant role in various diseases,such as neurodevelopmental disorders and congenital heart diseases.Therefore,this article mainly reviews the origin,characteristics,and impact of human de novo mutations on offspring health,with a view to provide insight for the future study in this field.

关 键 词：新生突变 突变起源 子代健康 

分 类 号：R394[医药卫生—医学遗传学]