Article
Population genetics of phenylketonuria.
Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Dec 1994
Eisensmith R C, Woo S L
Abstract excerpt
Phenylketonuria (PKU) is an autosomal recessive disorder caused by a large number of mutations at the phenylalanine hydroxylase (PAH) locus, most of which are strongly associated with specific RFLP or VNTR haplotypes. One of the major questions remaining in PKU research is why this apparently maladaptive disorder has been maintained at a frequency of approximately 1 in 10,000 among Caucasians. A growing number of...
Topics
- Asia
- Europe
- Founder Effect
- Gene Frequency
- Haplotypes
- Humans
- Molecular Epidemiology
- Mutation
- Phenylketonurias