title: Molecular studies and prenatal diagnosis of phenylketonuria in Chinese patients.
abstract: Phenylketonuria (PKU) is one of the most common inborn errors of metabolic disorders. Although PKU induced mental retardation can be prevented after neonatal screening by following treatment with low phenylalanine diet, some parents are seeking prenatal diagnosis. We screened for mutations in exon 3 and 7 of the PAH gene using the DGGE and restriction enzyme method, in combination with STR linkage analysis. Prenatal diagnosis was carried out in 8 PKU families. With this strategy, we are able to make prenatal diagnosis in about 65-70% PKU families. All diagnosis was confirmed in the newborn.
authors.affiliation: Xin Hua Hospital, Shanghai Second Medical University, Shanghai Institute for Pediatric Research, China. xhkj@public.sta.net.cn
authors.forename: G X
authors.initials: GX
authors.lastname: Fan
authors.forename: L X
authors.initials: LX
authors.lastname: Qing
authors.forename: Y
authors.initials: Y
authors.lastname: Jun
authors.forename: Z
authors.initials: Z
authors.lastname: Mei
mesh_terms: D002681:China / Q000453:epidemiology; D004586:Electrophoresis; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis* / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis; D015995:Prevalence; D020080:Tandem Repeat Sequences
chemical_list: D010651:Phenylalanine Hydroxylase