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

Maja Stojiljković | Zendy; Ana Stevanović | Zendy; Maja Djordjevic | Zendy; Branka Petrucev | Zendy; Nataša Tos̆ić | Zendy; Teodora Karan-Djurašević | Zendy; Sanja Aveic | Zendy; Milena Radmilovic | Zendy; Sonja Pavlović | Zendy

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

Author(s) -

Maja Stojiljković,

Ana Stevanović,

Maja Djordjevic,

Branka Petrucev,

Nataša Tos̆ić,

Teodora Karan-Djurašević,

Sanja Aveic,

Milena Radmilovic,

Sonja Pavlović

Publication year - 2007

Publication title -

archives of biological sciences

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.217

H-Index - 25

eISSN - 1821-4339

pISSN - 0354-4664

DOI - 10.2298/abs0703161s

Subject(s) - phenylalanine hydroxylase , genetics , mutation , haplotype , population , gene , biology , gene mutation , molecular genetics , restriction fragment length polymorphism , phenylketonurias , genotype , medicine , phenylalanine , environmental health , amino acid

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

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