INVESTIGATION OF SIX COMMON MUTATIONS ON PHENYLALANINE HYDROXYLASE GENE IN PHENYLKETONURIA PATIENTS IN GUILAN PROVINCE

Khazaei Koohpar, Z and Shabani, S and Safaei Asl, A and Ranji, N (2020) INVESTIGATION OF SIX COMMON MUTATIONS ON PHENYLALANINE HYDROXYLASE GENE IN PHENYLKETONURIA PATIENTS IN GUILAN PROVINCE. STUD MED SCI, 31 (1). pp. 24-33.

Preview

Text 4 Khazaeikohpar A-10-3984-2.pdf Download (2MB) | Preview

Abstract

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.

Actions (login required)

View Item