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拷贝数变异及其在法医学中的研究进展

Progress on Copy Number Variation and Its Application in Forensic Medicine
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摘要 近年来拷贝数变异的研究已逐渐延伸至各个领域,如复杂疾病病因探索、精准治疗以及遗传育种和进化等。拷贝数变异独有的遗传学特点使得人们逐渐相信其可以成为解决相关问题的生物学遗传标记。随着检测技术的发展,拷贝数变异在法医学方面的应用也将逐渐增多。本文就拷贝数变异概念与发展以及在法医学中的应用进行阐述,为今后拷贝数变异的实际应用提供新的思路。 Recently,researches on copy number variation(CNV)have extended to every field,such as etiological exploration and precise treatment of complex diseases,as well as genetic breeding and evolution.The unique genetic characteristics of CNV have made people gradually believe that it could be used as a biological genetic marker to solve related problems.With the development of detection technology,application of CNV in forensic medicine will increase gradually.In this paper,the concept and development of CNV,as well as its application in forensic medicine are summarized,to provide new ideas for the practical application of CNV in the future.
作者 徐倩南 张佳怡 李成涛 刘希玲 XU Qian-nan;ZHANG Jia-yi;LI Cheng-tao;LIU Xi-ling(West China School of Basic Medical Sciences&Forensic Medicine,Sichuan University,Chengdu 610041,China;Shanghai Key Laboratory of Forensic Medicine,Key Laboratory of Forensic Science,Ministry of Justice,Shanghai Forensic Service Platform,Academy of Forensic Science,Shanghai 200063,China;De⁃partment of Forensic Medicine,Inner Mongolia Medical University,Hohhot 010030,China)
出处 《法医学杂志》 CAS CSCD 2020年第2期256-262,共7页 Journal of Forensic Medicine
基金 “十三五”国家重点研发计划资助项目(2018YFC0807202) 国家自然科学基金资助项目(81871534,81625013) 中央级科研院所基本科研业务费资助项目(GY2017G-3) 上海市标准研制项目(17DZ2203800) 上海市科技创新行动计划资助项目(16DZ1205500) 上海市法医学重点实验室资助项目(17DZ2273200) 上海市司法鉴定专业技术服务平台资助项目(19DZ2292700)。
关键词 法医遗传学 拷贝数变异 同卵双生子 综述 forensic genetics copy number variation monozygotic twins review
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