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Dis Markers. 2014;2014:836082. doi: 10.1155/2014/836082. Epub 2014 Apr 15.

Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.

Author information

1
Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte 31270-901, MG, Brazil.
2
GENE-Núcleo de Genética Médica, Avenida Afonso Pena 3111, 9th Floor, Belo Horizonte 30130-909, MG, Brazil.
3
Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo 05508-900, SP, Brazil.
4
Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA 99207, USA.
5
Paw Print Genetics, Genetic Veterinary Sciences, Inc., Spokane, WA 99202, USA.
6
Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte 31270-901, MG, Brazil ; GENE-Núcleo de Genética Médica, Avenida Afonso Pena 3111, 9th Floor, Belo Horizonte 30130-909, MG, Brazil.

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.

PMID:
24839341
PMCID:
PMC4009252
DOI:
10.1155/2014/836082
[Indexed for MEDLINE]
Free PMC Article
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