Article
Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy.
The Indian journal of medical research - 1 Jan 2012
Marini M, Sasongko T H, Watihayati M S, Atif A B, Hayati F, Zabidi-Hussin Z A M H, Ravichandran M, Nishio H, Zilfalil B A
Abstract excerpt
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 allele-specific PCR for diagnostic screening of SMA is reliable in the presence of high amount of genomic DNA, which is...
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