Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene
نویسندگان
چکیده
منابع مشابه
Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
In the present study we report on the identification of ten novel mutations in the phenylalanine hydroxylase (PAH) gene of Brazilian patients with phenylketonuria (PKU): IVS5-54A>G, IVS6+17G>T, E205A, F240S, K274E, I318T, L321L, C357G, IVS11+17G>A and S411X. These mutations were detected during the characterization of the PAH genotypes of 115 patients with PKU from the southeast region of Brazi...
متن کاملgenetic diversity and balancing selection within the human phenylalanine hydroxylase (pah) gene region in iranian population
background: genetic diversity of three polymorphic markers in the phenylalanine hydroxylase (pah) gene region including pvu ii (a), pahstr and msp i were investigated. methods: unrelated individuals (n=139) from the iranian populations were genotyped using primers specific to pah gene markers including pvu ii(a), msp i and pahstr. the amplified products for pvu ii(a), msp i were digested using ...
متن کاملMutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria
Background: Phenylketonuria as the most common genetic metabolic disorder is the result of disruption of the phenylalanine hydroxylase gene. This study was carried out to explore the phenylalanine hydroxylase gene mutation status of Iranian phenylketonuria patients. Methods: Blood samples were collected from 30 patients, and hot spot areas of the phenylalanine hydroxylase gene, in...
متن کاملSplicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.
In about 20-30% of phenylketonuria (PKU) patients, phenylalanine (Phe) levels can be controlled by cofactor 6R-tetrahydrobiopterin (BH(4)) administration. The phenylalanine hydroxylase (PAH) genotype has a predictive value concerning BH(4)-response and therefore a correct assessment of the mutation molecular pathology is important. Mutations that disturb the splicing of exons (e.g. interplay be...
متن کاملMutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran
Objective(s):Phenylketonuria (PKU) is a genetic inborn error of phenylalanine (Phe) metabolism resulting from insufficiency in the hepatic enzyme, phenylalanine hydroxylase (PAH), which leads to elevated levels of Phe in the blood. The present study was carried out for mutation analysis of the PAH gene in West Azerbaijan province of Iran. Materials and Methods:A total of 218 alleles from 40 PKU...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2008
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-008-0264-4