title: [Detection of the mutational gene in phenylketonuria and prenatal diagnoses by using single strand conformation polymorphism methods].
abstract: OBJECTIVE
  To establish rapid methods for the detection of gene mutations and prenatal diagnosis of phenylketonuria (PKU).
  
  
  METHODS
  The single strand conformation polymorphism (SSCP) combined with silver staining technique were used to screen the mutations in the four exons of phenylalanine hydroxylase (PAH) gene. After the polymerase chain reaction, the DNA fragments were separated by electrophoresis on polyacrylamide gel containing glycerol and visualized by silver staining.
  
  
  RESULTS
  Three known missense mutations which are R243Q (E7)[CGA(Arg243)-->CAA (Gln)], R413P(E12) [CGC(Arg413)-->CCC(Pro)] and Y356X(E11)[TAC(Tyr156)-->TAA(Ter)] were detected in 21 degrees C, 28 degrees C and 7 degrees C. Three kinds of unknown abnormal DNA bands in exon 10 were detected in 21 degrees C. The mutations of 13 PKU families have been detected. Prenatal gene diagnoses were successfully performed in 5 pregnancies at risk with PKU.
  
  
  CONCLUSIONS
  The method is very useful for detecting the mutations and prenatal diagnoses of PKU families.
authors.affiliation: Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing.
authors.forename: T
authors.initials: T
authors.lastname: Yang
authors.forename: L
authors.initials: L
authors.lastname: Yuan
authors.forename: S
authors.initials: S
authors.lastname: Huang
mesh_terms: D005091:Exons; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010661:Phenylketonurias / Q000175:diagnosis* / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*