Volume 31, Issue 1 (April 2020)                   Stud Med Sci 2020, 31(1): 24-33 | Back to browse issues page

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Khazaei Koohpar Z, Ranji N, Safaei Asl A, Shabani S. INVESTIGATION OF SIX COMMON MUTATIONS ON PHENYLALANINE HYDROXYLASE GENE IN PHENYLKETONURIA PATIENTS IN GUILAN PROVINCE. Stud Med Sci. 2020; 31 (1) :24-33
URL: http://umj.umsu.ac.ir/article-1-4940-en.html
Asistant Professor, Department of Cell and Molecular Biology, Faculty of Biological Sciences,Tonekabon Branch, Islamic Azad University, Tonekabon, Iran.(Corresponding Author) , dz.khazaei@gmail.com
Abstract:   (1959 Views)
Background & Aims: Phenylketonuria (PKU) is an inborn error of amino acid metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). To date, more than 800 mutations have been identified in the PAH gene and registered in the PAHdb database and the spectrum of these mutations is varied in different populations. The main clinical manifestation of untreated patients is severe mental retardation. The aim of the present study was to identify the frequency of six common mutations on PAH gene in patients with PKU in Guilan province including p. R261Q, p. R252W, p.R261X, p. E280Kp.R243X, and p.P281L.
Materials & Methods: In this descriptive cross-sectional study, 25 unrelated PKU patients (1 to 21 years old, both female and male) in Guilan province were enrolled during a one-year period. Genomic DNA was extracted from leukocytes using High Pure PCR Template Preparation kit (Roche) and polymerase chain reaction. The sequencing method was applied to detect mutations.
Results: Two out of the six investigated mutations )p.R261Q, p.R252W, p.R261X, p.E280K, p.R243X, and p.P281L(were identified among the patients. The p.R261X mutation had the highest frequency (22%) among the patients and the frequency of p. R261Q mutation was 10%.
Conclusion: Although the present study investigated the frequencies of six mutations on the PAH gene, the mutations were only found on 32% of the chromosomes. Hence, different mutations are responsible for PKU disease in the north of Iran, and further studies are recommended to identify all of the mutations on the PAH gene in the region.
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Type of Study: Research | Subject: ژنتیک

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