title: Haplotype analysis of phenylalanine hydroxylase alleles in polish families with phenylketonuria.
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.
authors.affiliation: Department of Human Genetics, Polish Academy of Sciences, Poznah, Poland.
authors.forename: J
authors.initials: J
authors.lastname: Jaruzelska
authors.forename: K
authors.initials: K
authors.lastname: Borski
authors.forename: O
authors.initials: O
authors.lastname: Riess
authors.forename: N
authors.initials: N
authors.lastname: Blin
authors.forename: R
authors.initials: R
authors.lastname: Słomski
mesh_terms: D000483:Alleles; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*; D011044:Poland; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D010651:Phenylalanine Hydroxylase