![](/images/graphics-bg.png)
Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR
Joint Authors
Gonçalves-Dornelas, Higgor
Rosenfeld, Jill A.
Cunha, Pricila da Silva
Koiffmann, Celia Priszkulnik
Pena, Heloisa B.
Pena, Sérgio Danilo Junho
Shaffer, Lisa G.
Stofanko, Martin
D'Angelo, Carla Sustek
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-04-15
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Cunha, Pricila da Silva& Pena, Heloisa B.& D'Angelo, Carla Sustek& Koiffmann, Celia Priszkulnik& Rosenfeld, Jill A.& Shaffer, Lisa G.…[et al.]. 2014. Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR. Disease Markers،Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-501987
Modern Language Association (MLA)
Cunha, Pricila da Silva…[et al.]. Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR. Disease Markers No. 2014 (2014), pp.1-8.
https://search.emarefa.net/detail/BIM-501987
American Medical Association (AMA)
Cunha, Pricila da Silva& Pena, Heloisa B.& D'Angelo, Carla Sustek& Koiffmann, Celia Priszkulnik& Rosenfeld, Jill A.& Shaffer, Lisa G.…[et al.]. Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR. Disease Markers. 2014. Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-501987
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-501987