title: Prenatal diagnosis of phenylketonuria.
abstract: We report prenatal diagnosis of phenylketonuria by linkage analysis of the markers linked to the phenylalanine hydroxylase (PAH) gene. Three markers comprising STR (TCTAT)n in intron 3, VNTR (30bp long cassette) in the 3' UTR and Xmn1 RFLP were ascertained in the affected child, the parents and the chorionic villi sample. The foetus was confirmed to be heterozygous for the mutant allele. The diagnosis that the foetus was unaffected was confirmed by biochemical tests in the newborn.
authors.affiliation: Department of Genetic Medicine, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
authors.forename: Sudha
authors.initials: S
authors.lastname: Kohli
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Thomas
authors.forename: Pradeep
authors.initials: P
authors.lastname: Rao
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
mesh_terms: D004587:Electrophoresis, Agar Gel; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D018598:Minisatellite Repeats / Q000235:genetics; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis*; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D005819:Genetic Markers; D010651:Phenylalanine Hydroxylase