Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy.
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Date
2012-01
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Abstract
Background & objectives: Genetic 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 allelespecific
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.
Methods: A 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.
Results: The results from both methods showed agreement. Further, allele-specific PCR was found to be
a time-efficient and cost-effective method.
Interpretation & conclusions: Our 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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Keywords
allele-specific PCR, PCR-RFLP, SMA diagnostic screening, SMN1, spinal muscular atrophy
Citation
Marini M, Sasongko T H, Watihayati M S, Atif A B, Hayati F, Gunadi, Zabidi-Hussin Z A M H, Ravichandran M, Nishio H, Zilfalil B A. Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy. Indian Journal of Medical Research. 2012 Jan; 135(1): 31-35.