Article
Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene.
American journal of human genetics - 1 Apr 1991
Hofman K J, Steel G, Kazazian H H, Valle D
Abstract excerpt
We investigated the frequency, origin, and molecular basis of phenylketonuria (PKU) in U.S. blacks. On the basis of 10 years of Maryland newborn-screening data, we found the frequency to be 1/50,000, or one-third that in whites. We performed haplotype analysis of the phenylalanine hydroxylase (PAH) gene of 36 U.S. blacks, 16 from individuals with classical PKU and 20 from controls. In blacks, 20% of wild-type PAH...
Topics
- Alleles
- Amino Acid Sequence
- Black People
- DNA
- Gene Frequency
- Haplotypes
- Homozygote
- Humans
- Infant, Newborn
- Molecular Sequence Data
- Mutation
- Phenylalanine Hydroxylase