doiSerbia

Mutations in the PAH gene: A Tool for population genetics study

Stojiljković Maja (Institut za molekularnu genetiku i genetičko inženjerstvo, Beograd)
Stevanović Ana (Institut za molekularnu genetiku i genetičko inženjerstvo, Beograd)
Đorđević Maja (Institut za zdravstvenu zaštitu majke i deteta 'Dr Vukan Čupić', Beograd)
Petručev Branka (Institut za molekularnu genetiku i genetičko inženjerstvo, Beograd)
Tošić Nataša (Institut za molekularnu genetiku i genetičko inženjerstvo, Beograd)
Karan-Đurašević Teodora (Institut za molekularnu genetiku i genetičko inženjerstvo, Beograd)
Aveić Sanja (Institut za molekularnu genetiku i genetičko inženjerstvo, Beograd)
Radmilović Milena (Institut za molekularnu genetiku i genetičko inženjerstvo, Beograd)
Pavlović Sonja (Institut za molekularnu genetiku i genetičko inženjerstvo, Beograd)

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.

Keywords: Phenylketonuria, phenylalanine hydroxylase gene mutations, homozygosity value, expected heterozygosity, haplotype analysis