Multi-omics analyses of G6PD deficiency variants in Chinese population  

作　　者：He Ji Jiahuan Chen Peide Huang Zhimin Feng Weining Hu Mengyao Dai Xiaohui Sun Xiao Jin Guangquan Chen Guang Ning Lin Li Weiqing Wang Yanan Cao 

机构地区：[1]Department of Endocrine and Metabolic Diseases,Shanghai Institute of Endocrine and Metabolic Diseases,National Clinical Research Centre for Metabolic Diseases,State Key Laboratory of Medical Genomics,Research Unit of Clinical and Basic Research on Metabolic Diseases of Chinese Academy of Medical Sciences,Ruijin Yangtze River Delta Health Institute,Wuxi Branch of Ruijin Hospital,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China [2]National Research Center for Translational Medicine,National Key Scientific Infrastructure for Translational Medicine,Shanghai Jiao Tong University,Shanghai 200240,China [3]SJTU-BGI Innovation Research Center,Shanghai 200240,China [4]BGI-ShenZhen,Shenzhen,Guangdong 518083,China

出　　处：《Journal of Genetics and Genomics》2024年第1期100-104,共5页遗传学报（英文版）

基　　金：supported by the National Key Research and Development Program of China(2020YFA0112800,2020YFA0112801);the National Natural Science Foundation of China(82270842,82000829);CAMS Innovation Fund for Medical Sciences(2020-12M-5-002).

摘　　要：Glucose-6-phosphate dehydrogenase(G6PD)deficiency is one of the most prevalent hereditary and X-linked enzyme disorders caused by the pathogenetic G6PD(NM_001042351.2)variants(Yang et al.,2016).The clinical manifestations of G6PD deficiency offer a wide spectrum of diverse disease phenotypes(Hecker et al.,2013).Investigations of prevalence and molecular epidemiology demonstrate that G6PD deficiency affects over 400 milion individuals worldwide and leads to thousands of deaths annually(Mortality and Causes of Death,2015).

关 键 词：al. G6PD EPIDEMIOLOGY 

分 类 号：R394[医药卫生—医学遗传学]