Molecular Biomarkers & Diagnosis

Thomas L Lynch IV

Publications

• Research Article
  High-Throughput Diagnostic Assay for a Highly Prevalent Cardiomyopathy-Associated MYBPC3 Variant
  Author(s): David Y Barefield, Thomas L Lynch IV, Aravindakshan Jagadeesan, Thriveni Sanagala and Sakthivel SadayappanDavid Y Barefield, Thomas L Lynch IV, Aravindakshan Jagadeesan, Thriveni Sanagala and Sakthivel Sadayappan
  
  Particular MYBPC3. A 25-basepair deletion variant of MYBPC3 occurs at high frequency in individuals of South Asian descent and is estimated to affect 55 million people worldwide, carrying an increased likelihood of cardiomyopathy. Since this variant is prevalent and severe in this subpopulation, quick and affordable screening to provide risk-assessment to guide treatment for these patients is critical. An RNaseH qPCR assay was developed to quickly and specifically diagnose the presence of the 25-basepair deletion variant in MYBPC3. RNAseH-blocked nucleotide primers were designed to identify the presence or absence of the wild type MYBPC3 allele or the genomic sequence containing the 25-basepair deletion. Using this assay, three blinded operators were able to accurately determine the genotype from human genomic DNA samples from blood and saliva using a qPCR thermocycler. Furthermore, p.. Read More»
  DOI: 10.4172/2155-9929.1000303

  Abstract PDF