title: [Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis].
abstract: OBJECTIVE
  To establish a simple, rapid, inexpensive and sensitive method for detecting hot region for mutations in exon 7 of PAH gene.
  
  
  METHODS
  High-resolution melting (HRM) technology was used to detect a c.728G>A mutation in exon 7 in 88 patients with classical type phenylketonuria. Suspected mutations were validated by direct DNA sequencing.
  
  
  RESULTS
  The results detected by HRM are in good agreement with the results obtained by direct sequencing.
  
  
  CONCLUSIONS
  HRM analysis is a simple, rapid, inexpensive and sensitive method for detecting hot mutational region in exon 7 of PAH gene.
authors.affiliation: Central Laboratory of Taiyuan City Central Hospital, Taiyuan, Shanxi 030009, P R China. zya655903@163.com
authors.forename: Yong-an
authors.initials: YA
authors.lastname: Zhou
authors.forename: Wei-hua
authors.initials: WH
authors.lastname: Gao
authors.forename: Jian-ping
authors.initials: JP
authors.lastname: Yang
authors.forename: Quan-bin
authors.initials: QB
authors.lastname: Zhang
authors.forename: Gai-xiu
authors.initials: GX
authors.lastname: Zhang
authors.forename: Jian-ping
authors.initials: JP
authors.lastname: Liu
authors.forename: Yun-xia
authors.initials: YX
authors.lastname: Ma
authors.forename: Xiao-gang
authors.initials: XG
authors.lastname: Zhang
authors.forename: Liang
authors.initials: L
authors.lastname: Yu
mesh_terms: D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods*; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D009691:Nucleic Acid Denaturation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis* / Q000235:genetics*; D044366:Transition Temperature
chemical_list: D010651:Phenylalanine Hydroxylase