Article
[Mutation in the structure of exon 7 of the phenylalanine hydroxylase in phenylketonuria patients from the Novosibirsk area].
Genetika - 1 Jun 2000
Smagulova F O, Maslennikov A B, Morozov I V, Kitaĭnik G P
Abstract excerpt
The spectrum and frequency of mutations of exon 7 of the gene for phenylalanine hydroxylase (PAH) were studied in 34 phenylketonuria (PKU) patients living in Novosibirsk oblast. The five most prevalent mutations constituted 17.64% of defective alleles: R243Q (1.47%), R252W (1.47%), R261Q (5.88%), E280K (1.47%), and P281L (7.35%). A neutral polymorphic locus V245V was found within exon 7.
Topics
- Exons
- Humans
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymorphism, Genetic
- Siberia