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

• Published in: Chinese medical journal Vol. 133; no. 20; pp. 2510 - 2511
• Main Authors: Hong, Jing-Mei, Zhao, Miao, He, Jin, Huang, Xue-Jing, Zhao, Zhi-Yuan, Chen, Wan-Jin, Wang, Ning, Li, Jin-Jing
• Format: Journal Article
• Language: English
• Published: China Lippincott Williams & Wilkins 20.10.2020; Lippincott Williams & Wilkins Ovid Technologies; Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; Department of Neurology and Institute of Neurology, The First Affiliated Hospital, Institute of Neuroscience, Fujian Medical University, Fuzhou, Fujian 350005, China; Wolters Kluwer
• Subjects: Atrophy; Correspondence; Deoxyribonucleic acid; DNA; DNA Copy Number Variations - genetics; Genetic Testing; Genotype & phenotype; Humans; Methods; Motor Neurons; Multiplex Polymerase Chain Reaction; Muscular Atrophy, Spinal - genetics; Mutation; Polymerase chain reaction; Proteins; Siblings

Currently, multiplex ligation-dependent probe amplification (MLPA)[3] and an emerging method of droplet digital polymerase chain reaction (ddPCR)[4] are two widely used genetic screening methods. [...]the reproducibility of the two different technologies was compared for assessing copy numbers of SM...