Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction  

作　　者：Jing-Mei Hong Miao Zhao Jin He Xue-Jing Huang Zhi-Yuan Zhao Wan-Jin Chen Ning Wang Jin-Jing Li 

机构地区：[1]Department of Neurology and Institute of Neurology,The First Affiliated Hospital,Institute of Neuroscience,Fujian Medical University,Fuzhou,Fujian 350005,China [2]Fujian Key Laboratory of Molecular Neurology,Fujian Medical University,Fuzhou,Fujian 350005,China

出　　处：《Chinese Medical Journal》2020年第20期2510-2511,共2页中华医学杂志（英文版）

基　　金：grants from the National Natural Science Foundation of China(Nos.81771230,U1905210);the Joint Funds for the Innovation of Science and Technology of Fujian Province(Nos.2017Y9094 and 2018Y9082);the National Key Clinical Specialty Discipline Construction Program,the Key Clinical Specialty Discipline Construction Program of Fujian,and the Startup Fund for Scientific Research of Fujian Medical University(Nos.2018QH1050 and 2018QH2035).

摘　　要：To the Editor:Spinal muscular atrophy(SMA)is an autosomal recessive disease caused by a deficiency of the survival motor neuron 1(SMN1)protein,which causes the loss of motor neurons in the anterior horn of the spinal cord.⑴A genetically similar gene,SMN2,has a translationally silent C-to-T transition at Position 6 in its 7th exon that causes only 10%correctly spliced full-length and functional SMN protein via alternative splicing.

关 键 词：ATROPHY MUSCULAR TRANSLATIONAL 

分 类 号：R744.8[医药卫生—神经病学与精神病学]