accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative pcr
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ID: 166570
2014
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Abstract
Monosomy 1p36 is considered the most common subtelomeric deletion syndrome in humans and it accounts for 0.5–0.7% of all the cases of idiopathic intellectual disability. The molecular diagnosis is often made by microarray-based comparative genomic hybridization (aCGH), which has the drawback of being a high-cost technique. However, patients with classic monosomy 1p36 share some typical clinical characteristics that, together with its common prevalence, justify the development of a less expensive, targeted diagnostic method. In this study, we developed a simple, rapid, and inexpensive real-time quantitative PCR (qPCR) assay for targeted diagnosis of monosomy 1p36, easily accessible for low-budget laboratories in developing countries. For this, we have chosen two target genes which are deleted in the majority of patients with monosomy 1p36: PRKCZ and SKI. In total, 39 patients previously diagnosed with monosomy 1p36 by aCGH, fluorescent in situ hybridization (FISH), and/or multiplex ligation-dependent probe amplification (MLPA) all tested positive on our qPCR assay. By simultaneously using these two genes we have been able to detect 1p36 deletions with 100% sensitivity and 100% specificity. We conclude that qPCR of PRKCZ and SKI is a fast and accurate diagnostic test for monosomy 1p36, costing less than 10 US dollars in reagent costs.
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cunha2014diseaseaccurate,
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| Authors | ;Pricila da Silva Cunha;Heloisa B. Pena;Carla Sustek D’Angelo;Celia P. Koiffmann;Jill A. Rosenfeld;Lisa G. Shaffer;Martin Stofanko;Higgor Gonçalves-Dornelas;Sérgio Danilo Junho Pena |
| Journal | international journal of psychology : journal international de psychologie |
| Year | 2014 |
| DOI |
10.1155/2014/836082
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| URL | |
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