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Article

The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria.

Human genetics - 1 Jan 1991

Jaruzelska J, Henriksen K F, Güttler F, Riess O, Borski K, Blin N, Slomski R

Abstract excerpt

The incidence of phenylketonuria (PKU) in the western part of Poland is 1 in 5000 live births. Restriction fragment length polymorphism (RFLP) haplotypes at the phenylalanine hydroxylase locus have been analysed in 46 Polish families with PKU. Among 43 fully-informative families 16 RFLP haplotypes were identified. Haplotype 2 is the most frequently (62%) associated with Polish PKU alleles, and the codon 408...

Topics

Alleles
Codon
Genetic Linkage
Haplotypes
Humans
Incidence
Mutation
Phenylalanine Hydroxylase
Phenylketonurias
Poland
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Restriction Mapping

Source

Identifiers

PMID: 1671768
DOI: 10.1007/BF00202402

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1671768-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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