title: Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.
abstract: A total of 10 restriction site polymorphisms have been identified at the human phenylalanine hydroxylase locus using a full-length human phenylalanine hydroxylase cDNA clone as a hybridization probe to analyze human genomic DNA. These polymorphic patterns segregate in a Mendelian fashion and concordantly with the disease state in various PKU kindreds. The frequencies of the restriction site polymorphisms at the human phenylalanine hydroxylase locus among Caucasians are such that the observed heterozygosity in the population is 87.5%. Thus, most families with a history of classical phenylketonuria can take advantage of the genetic analysis for prenatal diagnosis and carrier detection of the hereditary disorder.
authors.affiliation: Howard Hughes Medical Institute, Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: A S
authors.initials: AS
authors.lastname: Lidsky
authors.forename: F D
authors.initials: FD
authors.lastname: Ledley
authors.forename: A G
authors.initials: AG
authors.lastname: DiLella
authors.forename: S C
authors.initials: SC
authors.lastname: Kwok
authors.forename: S P
authors.initials: SP
authors.lastname: Daiger
authors.forename: K J
authors.initials: KJ
authors.lastname: Robson
authors.forename: S L
authors.initials: SL
authors.lastname: Woo
mesh_terms: D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis* / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D010651:Phenylalanine Hydroxylase