Article
Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia.
Journal of inherited metabolic disease - 1 Jan 1993
Kozák L, Dvoráková D, Pijácková A, Kamarýt J
Abstract excerpt
The analysis of 21 families affected with classical phenylketonuria (PKU) from the Moravian area of Czechoslovakia has revealed 12 different RFLP haplotypes. Nine and eight haplotypes were associated with the normal and with the mutant alleles, respectively. Most normal alleles are associated with haplotype 1 (42.9%). Almost 80% of all mutant alleles are confined within only three haplotypes (1, 2 and 4). There...
Topics
- Czechoslovakia
- Genetic Linkage
- Haplotypes
- Humans
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymorphism, Restriction Fragment Length