title: Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy.
abstract: OBJECTIVE
  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 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.
  
  
  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.
authors.affiliation: Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.
authors.forename: M
authors.initials: M
authors.lastname: Marini
authors.forename: T H
authors.initials: TH
authors.lastname: Sasongko
authors.forename: M S
authors.initials: MS
authors.lastname: Watihayati
authors.forename: A B
authors.initials: AB
authors.lastname: Atif
authors.forename: F
authors.initials: F
authors.lastname: Hayati
authors.forename: Z A M H
authors.initials: ZA
authors.lastname: Zabidi-Hussin
authors.forename: M
authors.initials: M
authors.lastname: Ravichandran
authors.forename: H
authors.initials: H
authors.lastname: Nishio
authors.forename: B A
authors.initials: BA
authors.lastname: Zilfalil
mesh_terms: D000293:Adolescent; D000483:Alleles; D002648:Child; D005091:Exons; D005260:Female; D017048:Health Care Costs; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000473:pathology; D016133:Polymerase Chain Reaction / Q000379:methods*; D017384:Sequence Deletion; D055533:Survival of Motor Neuron 1 Protein / Q000097:blood* / Q000235:genetics; D055540:Survival of Motor Neuron 2 Protein / Q000097:blood / Q000235:genetics
chemical_list: C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein