title: Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria.
abstract: The first phenylketonuria mutation identified in the human phenylalanine hydroxylase gene is a single base substitution (GT----AT) in the canonical 5'-splice donor site of intron 12. Direct hybridization analysis using specific oligonucleotide probes demonstrates that the mutation is tightly associated with a specific restriction fragment-length polymorphism haplotype among mutant alleles. The splicing mutation is the most prevalent phenylketonuria allele among Caucasians, and the results suggest the possibility of detecting carriers of the genetic trait who have no family history of phenylketonuria.
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000032:analysis; D004262:DNA Restriction Enzymes; D004274:DNA, Recombinant; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics* / Q000517:prevention & control; D012326:RNA Splicing; D044465:White People
chemical_list: D004274:DNA, Recombinant; D005819:Genetic Markers; D004247:DNA; D010651:Phenylalanine Hydroxylase; D004262:DNA Restriction Enzymes