Article
Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.
Metabolic brain disease - 1 Oct 2017
Razipour Masoumeh, Alavinejad Elaheh, Sajedi Seyede Zahra, Talebi Saeed, Entezam Mona, Mohajer Neda, Kazemi-Sefat Golnaz-Ensieh, Gharesouran Jalal, Setoodeh Aria, Mohaddes Ardebili Seyyed Mojtaba, Keramatipour Mohammad
Abstract excerpt
Phenylketonuria (PKU), one of the most common inborn errors of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene (PAH). PKU has wide allelic heterogeneity, and over 600 different disease-causing mutations in PAH have been detected to date. Up to now, there have been no reports on the minihaplotype (VNTR/STR) analysis of PAH locus in the Iranian population. The aims of the...
Topics
- Female
- Gene Frequency
- Genotype
- Haplotypes
- Humans
- Introns
- Iran
- Minisatellite Repeats
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction
- Prevalence