title: Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method.
abstract: Detection of human microdeletion and microduplication syndromes poses significant burden on public healthcare systems in developing countries. With genome-wide diagnostic assays frequently inaccessible, targeted low-cost PCR-based approaches are preferred. However, their reproducibility depends on equally efficient amplification using a number of target and control primers. To address this, the recently described technique called Microdeletion/Microduplication Quantitative Fluorescent PCR (MQF-PCR) was shown to reliably detect four human syndromes by quantifying DNA amplification in an internally controlled PCR reaction. Here, we confirm its utility in the detection of eight human microdeletion syndromes, including the more common WAGR, Smith-Magenis, and Potocki-Lupski syndromes with 100% sensitivity and 100% specificity. We present selection, design, and performance evaluation of detection primers using variety of approaches. We conclude that MQF-PCR is an easily adaptable method for detection of human pathological chromosomal aberrations.
authors.affiliation: GENE-Núcleo de Genética Médica, Avenida Afonso Pena 3111, 9th Floor, 30130-909 Belo Horizonte, MG, Brazil.
authors.forename: Martin
authors.initials: M
authors.lastname: Stofanko
authors.forename: Joan C
authors.initials: JC
authors.lastname: Han
authors.forename: Sarah H
authors.initials: SH
authors.lastname: Elsea
authors.forename: Heloísa B
authors.initials: HB
authors.lastname: Pena
authors.forename: Higgor
authors.initials: H
authors.lastname: Gonçalves-Dornelas
authors.forename: Sérgio Danilo Junho
authors.initials: SD
authors.lastname: Pena
mesh_terms: D001483:Base Sequence; D016022:Case-Control Studies; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D056915:DNA Copy Number Variations; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000191:economics; D015894:Genome, Human; D006801:Humans; D008297:Male; D025202:Molecular Diagnostic Techniques / Q000191:economics; D016133:Polymerase Chain Reaction / Q000191:economics*; D012372:ROC Curve
chemical_list: D017931:DNA Primers