| ORIGINAL ARTICLE |
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| Year : 2012 | Volume
: 18
| Issue : 3 | Page : 290-293 |
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Molecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western Iran
Keyvan Moradi1, Reza Alibakhshi2, Keyghobad Ghadiri3, Saeid Reza Khatami1, Hamid Galehdari1
1 Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran
2 Department of Biochemistry, School of Medicine, Kermanshah; Nano Drug Delivery Research Centre, Kermanshah University of Medical Sciences, Kermanshah, Iran
3 Infectious Disease Research Center, Kermanshah University of Medical Sciences, Kermanshah, Iran
Correspondence Address:
Reza Alibakhshi
Department of Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah
Iran
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/0971-6866.107978
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Background: Phenylketonuria (PKU) is an inborn error of amino acid metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). According to PAH database, exons 6 and 7 and their flanking introns of PAH gene contain the greatest number of mutant alleles. Therefore, as a preliminary study, nucleotide sequence analysis of exons 6 and 7 of the PAH gene has been performed in 25 PKU patients whose ancestors lived in Kermanshah province of Iran. To date, there has been no mutation data describing the genotypes of the PKU disease in this Kurdish ethnic region background.
Materials and Methods: Twenty-five patients (aged between 2 and 23 years) participated in this study. The DNA fragments containing two exons of the PAH gene [6 and 7] and their exon-flanking intronic sequences were amplified and sequenced.
Results: The total of detected mutations were R261X (8%), R176X (4%), R243Q (4%), R243X (2%) and R261Q (2%), as they accounted for 20% of all mutant alleles in this study. The identified polymorphisms are: IVS5 -54 G > A (22%), Q232Q (8%) and V245V (4%). All of the detected mutations in this study are related to CpG dinucleotides in the PAH gene sequence.
Conclusion: The frequency of R261X, the most common mutation in our study, in Iranian population is <5%. Furthermore, there is no report of detection of R176X and R243Q in Isfahan and Azeri Turkish populations. These findings confirm the common Mediterranean mutations in this local population, although with more or lower frequencies than those reported in other related studies in Iran. Therefore, it may be necessary to study the PAH gene mutations in other provinces of Iran separately. |
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