Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA

Brain & Development
Mawaddah Ar RochmahMasakazu Shinohara

Abstract

Spinal muscular atrophy (SMA) is a common neuromuscular disorder caused by mutations in SMN1. More than 95% of SMA patients carry homozygous SMN1 deletion. SMA is the leading genetic cause of infant death, and has been considered an incurable disease. However, a recent clinical trial with an antisense oligonucleotide drug has shown encouraging clinical efficacy. Thus, early and accurate detection of SMN1 deletion may improve prognosis of many infantile SMA patients. A total of 88 DNA samples (37 SMA patients, 12 carriers and 39 controls) from dried blood spots (DBS) on filter paper were analyzed. All participants had previously been screened for SMN genes by PCR restriction fragment length polymorphism (PCR-RFLP) using DNA extracted from freshly collected blood. DNA was extracted from DBS that had been stored at room temperature (20-25°C) for 1week to 5years. To ensure sufficient quality and quantity of DNA samples, target sequences were pre-amplified by conventional PCR. Real-time modified competitive oligonucleotide priming-PCR (mCOP-PCR) with the pre-amplified PCR products was performed for the gene-specific amplification of SMN1 and SMN2 exon 7. Compared with PCR-RFLP using DNA from freshly collected blood, results from rea...Continue Reading

Citations

Jan 11, 2020·Frontiers in Genetics·Yiming LinXinwen Huang
Nov 24, 2017·Molecular Genetics & Genomic Medicine·Felicity K BoardmanPhilip J Young
Oct 20, 2020·International Journal of Neonatal Screening·Masakazu ShinoharaUNKNOWN SMA-NBS PILOT STUDY GROUP
Oct 20, 2020·International Journal of Neonatal Screening·Yogik Onky Silvana WijayaMasakazu Shinohara
Feb 10, 2021·International Journal of Neonatal Screening·Yogik Onky Silvana WijayaMasakazu Shinohara
Apr 25, 2021·Brain & Development·Yogik Onky Silvana WijayaMasakazu Shinohara

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