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Disease Markers
Volume 35, Issue 6, Pages 589–594
Research Article

Rapid and Inexpensive Screening of Genomic Copy Number Variations Using a Novel Quantitative Fluorescent PCR Method

1GENE-Núcleo de Genética Médica, Avenida Afonso Pena 3111, 9th Floor, 30130-909 Belo Horizonte, MG, Brazil
2Unit on Metabolism and Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD 20892-1103, USA
3Departments of Human and Molecular Genetics and Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA 23298-0033, USA
4Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
5Departmento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, 31270-901 Belo Horizonte, MG, Brazil

Received 26 July 2013; Revised 14 September 2013; Accepted 15 September 2013

Academic Editor: Francisco Blanco-Vaca

Copyright © 2013 Martin Stofanko et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.