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Haplotype analysis of phenylalanine hydroxylase alleles in polish families with phenylketonuria.

Jadwiga Jaruzelska, Krzysztof Borski, O Riess, Nikolaus Blin, Ryszard Słomski

Abstract

Eight polymorphic restriction enzyme sites at phenylalanine hydroxylase locus from the parental chromosomes in Polish families with phenylketonuria were analyzed. Among 28 chromosomes studied, we identified haplotypes found within the Danish population. Haplotype 2 has been found in 25% of affected alleles. One of the patients studied is homozygous for this haplotype.

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Key concepts: Phenylalanine hydroxylase, Haplotype, Allele, Genetics, Phenylketonurias, Locus (genetics), Phenylalanine, Biology