Mutations in the PAH gene: A Tool for population genetics study
| Autor: | Natasa Tosic, Ana Z. Stevanovic, Sanja Aveic, Maja Djordjevic, Maja Stojiljkovic, Branka Petrucev, Sonja Pavlovic, Milena Radmilovic, Teodora Karan-Djurasevic |
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| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: |
Genetics
education.field_of_study congenital hereditary and neonatal diseases and abnormalities Population Mutant Population genetics nutritional and metabolic diseases Biology Molecular biology General Biochemistry Genetics and Molecular Biology phenylalanine hydroxylase gene mutations lcsh:Biology (General) haplotype analysis Phenylketonuria Mutation detection Allele General Agricultural and Biological Sciences education homozygosity value Gene lcsh:QH301-705.5 expected heterozygosity |
| Zdroj: | Archives of Biological Sciences, Vol 59, Iss 3, Pp 161-167 (2007) |
| ISSN: | 0354-4664 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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