title: Phenylketonuria in Iranian population: a study in institutions for mentally retarded in Isfahan.
abstract: Phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene (12q22-q24) resulting in a primary deficiency of the PAH enzyme activity, intolerance to the dietary intake of phenylalanine (Phe) and production of the phenylketonuria (PKU) disease. To date there have been no reports on the molecular analysis of PKU in Iranian population. In this study, the states of the PKU disease in terms of prevalence and mutation spectrum among patients reside in the institutions for mentally retarded in Isfahan was investigated. In the first step, 611 out of 1541 patients with PKU phenotype or severe mental retardation were screened for the PKU disease using the Guthrie bacterial inhibition assay (GBIA) followed by HPLC. Among the patients screened 34 (5.56%) were found positive with abnormal serum Phe of above 7mg/dl. In the next step, the presence of 18 common mutations of the PAH gene in 26 of the patients with classical PKU (serum Phe above 20mg/dl) was investigated, using the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Of the 52 independent mutant alleles that were analyzed, 34 (65.38%) were genotyped showing 8 mutations as follows: R252W (15.38%), Q232Q (13.46%), R261Q (7.69%), delL364 (7.69%), IVS10-11g>a (5.77%), L333F (5.77%), V245V (5.77%) and S67P (3.85%). The results from this study may serve as a reference to analyze the PKU mutations in other part of Iran, and to establish diagnostic tests for carrier detection and prenatal diagnosis of the PKU disease in Iranian population.
authors.affiliation: Department of Biology, Faculty of Science, Division of Genetics, Isfahan University, Hezarjerib Street, Iran. svallian@medinews.com
authors.forename: Sadeq
authors.initials: S
authors.lastname: Vallian
authors.forename: Elham
authors.initials: E
authors.lastname: Barahimi
authors.forename: Hasan
authors.initials: H
authors.lastname: Moeini
mesh_terms: D002851:Chromatography, High Pressure Liquid; D005787:Gene Frequency; D006801:Humans; D007326:Institutionalization; D008607:Intellectual Disability; D007492:Iran / Q000453:epidemiology; D007962:Leukocytes / Q000378:metabolism; D008403:Mass Screening; D008826:Microbial Sensitivity Tests; D009154:Mutation / Q000235:genetics*; D010649:Phenylalanine / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000097:blood / Q000235:genetics; D010661:Phenylketonurias / Q000201:enzymology / Q000208:ethnology* / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping
chemical_list: D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase