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Islamic Azad University
Abstract:   (44 Views)
Backgrounds and Objectives: Phenylketonuria(PKU),the  most  common  inborn  error  of amino acid metabolism,is an autosomal recessive disorder caused by more than 600 mutations in Phenylalanine Hydroxylase Gene (PAH) .Distribution pattern of mutations in the PAH gene are specific to each population. The aim of this study was to identify mutations in exons 10 and 11 of the PAH gene in patients with PKU from Golestan Province and compare it with the studies in other parts of Iran.
Materials and Methods: During a one-year period, Twenty- six  unrelated PKU  patients were identified from different regions of Golestan province. Genomic DNA was extracted from leukocytes using High Pure- Template PCR kit (Roche) and polymerase chain reaction – sequencing  method was applied to detect mutations.
Results: The identified mutations in this study are: IVS10-11G>A(19.23%) and IVS11+1G>C(7.7%)  . These patients had classic PKU phenotype.
Conclusion: The high frequency of IVS10-11G>A mutation in Golestan province may be related to genetic drift, founder effect, and consanguinity. Moreover investigation of mutations in PAH gene  can be a useful tool for molecular detection of PKU disease and carrier detection in this population.
Type of Study: Research | Subject: Genetic

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