Abstract
Phenylketonuria (PKU), an inborn error of metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. In the Serbian population, 19 different PAH mutations have been identified. We used PAH mutations as molecular markers for population genetics study. The low homozygosity value of the PAH gene (0.10) indicates that PKU in Serbia is heterogeneous, reflecting numerous migrations throughout Southeast Europe. The strategy for molecular diagnostics of PKU was designed accordingly. To elucidate the origin of the most common (L48S) PKU mutation in Serbia, we performed haplotype analysis by PCR-RFLP. Our results suggest that the L48S mutation was imported into Serbia from populations with different genetic backgrounds.
Highlights
Phenylketonuria (PKU, MIM#261600) is the most common inborn error of amino acid metabolism in Caucasians
The Serbian population is characterized by a high number of different mutations in the phenylalanine hydroxylase (PAH) gene: 19 different disease-causing mutations have been identified (Stojiljković et al, 2006)
Mutations in the PAH locus were used as markers for genetic variations in the Serbian population
Summary
Phenylketonuria (PKU, MIM#261600) is the most common inborn error of amino acid metabolism in Caucasians (average incidence of 1/10000). It is transmitted in an autosomal recessive pattern and is caused by deficiency of the hepatic enzyme, phenylalanine hydroxylase (PAH, EC 1.14.16.1), which catalyzes the conversion of phenylalanine to tyrosine. Disfunction of the PAH enzyme results in an elevated serum level of phenylalanine and mental retardation, unless dietary intake of phenylalanine is restricted (Donlon et al, 2006). Deficiency of PAH is mainly caused by mutations in the PAH gene Over 500 different mutations have been identified in the PAH gene so far and recorded in the PAH locus knowledgebase (http://www.pahdb.mcgill.ca) (Scriver et al, 2003)
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