线粒体信使RNA基因变异分类标准解读  

Interpretation of clinical and laboratory interpretation of mitochondrial messenger RNA variants

作　　者：尹飞[1] Lee-jun Wong 蒋莉[3] 周水珍 方方[5] 陈燕惠[6] 张爱华[7] 操德智[8] 韩蕴丽[9] 孙丹 羊蠡[1] 吴腾辉 张巍[2] 彭镜[1] Fei Yin;Lee-jun Wong;Li Jiang;Shuizhen Zhou;Fang Fang;Yanhui Chen;Aihua Zhang;Dezhi Cao;Yunli Han;Dan Sun;Li Yang;Tenghui Wu;Wei Zhang;Jing Peng(Department of Pediatrics,Xiangya Hospital,Central South University,Changsha 410008,China;Department of Molecular and Human Genetics,Baylor College of Medicine,Texas 77030,USA;Department of Neurology,Chongqing Children′s Hospital,Chongqing 400014,China;Department of Neurology,Children′s Hospital of Fudan University,Shanghai 200433,China;Department of Neurology,Beijing Children′s Hospital,Beijing 100045,China;Department of Pediatrics,Fujian Medical University Union Hospital,Fuzhou 350005,China;Department of Nephrology,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China;Department of Neurology,Shenzhen Children′s Hospital,Shenzhen 518038,China;Department of Pediatrics,First Affiliated Hospital of Guangxi Medical University,Nanning 530027,China;Department of Neurology,Wuhan Children′s Hospital,Wuhan 430016,China)

机构地区：[1]中南大学湘雅医院儿科,长沙410008 [2]美国贝勒医学院临床分子遗传学,得克萨斯州77030 [3]重庆医科大学附属儿童医院神经内科,400014 [4]复旦大学附属儿科医院神经科,上海200433 [5]首都医科大学附属北京儿童医院神经内科,100045 [6]福建医科大学附属协和医院儿内科,福州350005 [7]南京医科大学附属儿童医院肾内科,210008 [8]深圳市儿童医院神经内科,518038 [9]广西医科大学一附院儿科,南宁530027 [10]武汉儿童医院神经内科,430016

出　　处：《中华儿科杂志》2021年第12期1032-1037,共6页Chinese Journal of Pediatrics

摘　　要：线粒体疾病受线粒体DNA和核基因组的双重调控,对线粒体DNA的变异解读一直充满挑战,本文将美国贝勒医学院临床医学遗传诊断室于2020年发表的线粒体信使RNA(mRNA)变异分类标准进行解读,以期为我国临床医生提供线粒体mRNA变异解读的最新依据。

关 键 词：诊断室 临床医生 基因变异 线粒体DNA 信使RNA 线粒体疾病 标准解读 分类标准 

分 类 号：R725.9[医药卫生—儿科]