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J Mol Biomark Diagn. 2016 Nov;7(6). pii: 303. Epub 2016 Sep 30.

High-Throughput Diagnostic Assay for a Highly Prevalent Cardiomyopathy-Associated MYBPC3 Variant.

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Department of Cell and Molecular Physiology, Loyola University, Chicago, USA; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Department of Cell and Molecular Physiology, Loyola University, Chicago, USA.
Department of Cardiology and Echocardiography and Cardiographics, Loyola University, Chicago, USA.


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, positive variant subjects were examined by both electrocardiography and echocardiography for the presence of cardiomyopathy. A simple, robust assay was established, verified and validated that can be automated to detect the presence of the highly prevalent 25-basepair deletion MYBPC3 variant using both blood and saliva samples. The assay will provide quick and accurate prescreening of individuals at high risk for cardiomyopathies and allow for better clinical identification of 25-basepair deletion MYBPC3 carriers in large cohort epidemiological studies.


DNA diagnostic test; Genotype-phenotype; Hypertrophic cardiomyopathy; RNaseH qPCR; South Asian population

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