title: Detection of point mutations of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria.
abstract: The known mutant alleles of the human phenylalanine hydroxylase (PAN) gene were analyzed in 25 phenylketonuria (PKU) families from North China by using polymerase chain reaction and allele-specific oligonucleotide dot blot hybridization techniques. The results showed that the six mutations analyzed accounted for 62% of all PKU genes. The three most frequent mutations were R243Q, R413P and Y204C. Seven prenatal gene diagnoses were carried out in 6 PKU families and were confirmed after birth or by examination of aborted materials.
authors.affiliation: Institute of Basic Medical Sciences, CAMS, Beijing.
authors.forename: B
authors.initials: B
authors.lastname: Fang
authors.forename: L
authors.initials: L
authors.lastname: Yuan
authors.forename: M
authors.initials: M
authors.lastname: Wang
authors.forename: S
authors.initials: S
authors.lastname: Huang
authors.forename: T
authors.initials: T
authors.lastname: Wang
authors.forename: S
authors.initials: S
authors.lastname: Miao
authors.forename: J
authors.initials: J
authors.lastname: Ye
authors.forename: N
authors.initials: N
authors.lastname: Sun
authors.forename: H
authors.initials: H
authors.lastname: Lo
authors.forename: L C
authors.initials: LC
authors.lastname: Savio
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D010375:Pedigree; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis* / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D004247:DNA; D010651:Phenylalanine Hydroxylase