Investigation on the deletion and duplication of PMP۲۲ gene in patients with Charcot-Marie-Tooth using Real-time PCR in Chaharmahal and Bakhtiari and Isfahan Provinces

Background and aims: Charcot-Marie-Tooth (CMT) is a common sensory-motor polyneuropathy with a prevalence of ۱/۲۵۰۰. It is dividedinto different subgroups and has various hereditary patterns. Among the different subgroups of CMT, type ۱A is the most prevalent formof the disease, which is created due to the duplication of the PMP۲۲ gene. In patients has a deletion in the PMP۲۲ gene, the hereditaryneuropathic disease is known to be liable to pressure. The aim of this study was to identify the patients affected by the disease with the new,simple, and fast qPCR method and to investigate the appropriateness of this method in evaluating these types of mutations.Methods: In this analytical-descriptive study (code:IR.SKUMS.REC.۱۳۹۴.۱۵۲), gene duplication and deletion in the patients were studiedusing the Excel software. The blood samples of ۱۵ families afflicted with CMT and ۴۹ healthy individuals were collected in EDTAanticoagulant tubes and analyzed. DNA extraction and quantitative real-time PCR method were applied for the PMP۲۲ gene as the targetgene and the albumin gene as the internal control gene.Results: Two genes were compared in each patient, and it was found that ۴۶% of the subjects had duplication in the PMP۲۲ gene.Conclusion: The qPCR method is an easy and fast way to detect gene duplication and deletion in CMT patients. It does not require anystatistical software and can be performed without needing for parental DNA. In addition, the results of this study are consistent with theresults of various studies in some countries of the world where the highest levels of deletion and duplication in PMP۲۲ gene are seen.

کلیدواژه ها:

CMT۱A ، PMP۲۲ gene ، Quantitative real-time PCR