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

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 delet

SUBMITTER: Cunha Pda S 

PROVIDER: S-EPMC4009252 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature