Article
Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.
American journal of human genetics - 1 Jan 1997
Pérez B, Desviat L R, Ugarte M
Abstract excerpt
The aim of this study was to characterize the phenylketonuria (PKU) alleles in the Spanish population, by both identifying the causative mutations and analyzing the RFLP haplotypes and the VNTR and short-tandem-repeat alleles associated with the phenylalanine hydroxylase (PAH) gene. We have investigated 129 independent mutant chromosomes, using denaturing gradient gel electrophoresis (DGGE) and direct sequencing....
Topics
- DNA Mutational Analysis
- Electrophoresis
- Ethnicity
- Gene Frequency
- Genetic Heterogeneity
- Genetic Markers
- Haplotypes
- Humans
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymorphism, Genetic
- Polymorphism, Restriction Fragment Length
- Repetitive Sequences, Nucleic Acid
- Spain