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
• ISSN: 0366-6999; 2542-5641; 2542-5641
• DOI: 10.1097/CM9.0000000000001102

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 SMN1 and SMN2. [...]it became clearly that there were other modifiers caused the inconsistent phenotype for the siblings. [...]it could be seen that when patients who have inconsistent phenotype were met, as the most basic and common factor to determine the severity clinical phenotype of SMA patients, it is better to select a reproducible and reliable genetic screening method for copy number quantification of SMN2, then to provide the basis for further discussing SMA-severity genetic modifiers. 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.