ArticleThe Indian journal of medical research2012
Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy.
Article in The Indian journal of medical research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Performance of cellulose-based card for direct genetic testing of spinal muscular atrophy.BMC biotechnology · 2025Article
- Rapid visual detection ofOpen life sciences · 2020Article
- A PCR-RFLP method for detection of theThe Indian journal of medical research · 2016Article
- Modified low cost SNP genotyping technique using cycle threshold (Ct) & melting temperature (Tm) values in allele specific real-time PCR.The Indian journal of medical research · 2015Article
- Rapid molecular diagnosis of spinal muscular atrophy.The Indian journal of medical research · 2012Article
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10 authors.
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No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND &
objectivesGenetic diagnosis of spinal muscular atrophy (SMA) is complicated by the presence of SMN2 gene as majority of SMA patients show absence or deletion of SMN1 gene. PCR may amplify both the genes non selectively in presence of high amount of DNA. We evaluated whether allele-specific PCR for diagnostic screening of SMA is reliable in the presence of high amount of genomic DNA, which is commonly used when performing diagnostic screening using restriction enzymes.
methodsA total of 126 blood DNA samples were tested in amounts ranging 80-200 ng, referred for the genetic diagnosis of SMA using both conventional PCR-RFLP and allele-specific PCR.
resultsThe results from both methods showed agreement. Further, allele-specific PCR was found to be a time-efficient and cost-effective method. INTERPRETATION &
conclusionsOur study demonstrated the accuracy of our allele-specific PCR and the results were comparable compatible with that of PCR-RFLP, indicating its practical application in SMA diagnostic screening.
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