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

作者机构：Department of Neurology and Institute of NeurologyThe First Affiliated HospitalInstitute of NeuroscienceFujian Medical UniversityFuzhouFujian 350005China Fujian Key Laboratory of Molecular NeurologyFujian Medical UniversityFuzhouFujian 350005China 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2020年第133卷第20期

页      面：2510-2511页

核心收录：

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

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) 

主　　题：atrophy muscular translational 

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.