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:: Volume 19, Number 6 (6-2017) ::
Back to browse issues page JBUMS 2017, 19(6): 0-0
Molecular diagnosis of phenylalanine hydroxylase (PAH) gene mutations by HRM
M Amir, M Emadi-Baygi, S Vallian, P Nikpour, F Akhondi *
University of Shahrekord , fatemeh.akhoundi68@gmail.com
Abstract:   (136 Views)

BACKGROUND AND OBJECTIVE: Phenylketonuria (PKU) is the most prevalent inborn error of amino acid metabolism in the world resulting from hepatic phenylalanine hydroxylase (PAH) enzyme deficiency The incidence of PKU is different among different populations in the world, and the incidence rate in Iran is increasing. Early diagnosis of this disease can prevent the occurrence of the symptoms. The aim of this study was to assess the efficiency of HRM technique as a fast and suitable method in identifying phenylalanine hydroxylase gene mutations including IVS10-11G>A and P281L.

METHODS: In the present study, 20 DNA samples including IVS10-11G>A and P281L mutations and control samples were extracted from peripheral blood and were genotyped with HRM technique in the Real time PCR instrument. The sample were already genotyped using sequencing for the presence of the mutations. Bioinformatics analyses were used for determining the effects of P281L mutation on the structure and function of PAH protein.

FINDINGS: High-resolution melting analysis identified IVS10-11G>A and P281L mutations with a sensitivity and specificity of 100% and the mutant and normal samples differentiated well in normalized and difference plots. Bioinformatics analyses demonstrated instability and disease effects of PAH protein containing P281L mutation.

CONCLUSION: HRM technique is fast and cost effective and can identify different mutations with high sensitivity and specificity.

Keywords: Phenylketonuria, High-resolution melting (HRM), Genotyping
     
Type of Study: Case-Control | Subject: J
Received: 2017/01/1 | Accepted: 2017/05/23 | Published: 2017/06/10
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Amir M, Emadi-Baygi M, Vallian S, Nikpour P, Akhondi F. Molecular diagnosis of phenylalanine hydroxylase (PAH) gene mutations by HRM. JBUMS. 2017; 19 (6)
URL: http://jbums.org/article-1-6549-en.html
Back to browse issues page Volume 19, Number 6 (6-2017)
مجله علمی دانشگاه علوم پزشکی بابل Journal of Babol University of Medical Sciences
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