Article
An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.
Nature - 1 Jan 2000
DiLella A G, Marvit J, Brayton K, Woo S L
Abstract excerpt
Phenylketonuria (PKU) is an autosomal recessive human genetic disorder caused by a deficiency of hepatic phenylalanine hydroxylase (PAH, phenylalanine 4-monooxygenase, EC 1.14.16.1). PKU is a common inborn error of amino-acid metabolism in caucasian populations and approximately 1 in 50 individuals are carriers of a PKU allele. To define the molecular basis of PKU, we characterized twelve restriction...
Topics
- Alleles
- Amino Acid Sequence
- DNA
- Europe
- Haplotypes
- Humans
- Mutation
- Nucleic Acid Hybridization
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymorphism, Genetic
- Polymorphism, Restriction Fragment Length