title: The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.
abstract: OBJECTIVE
  Classical galactosemia (McKusick 230400) is an autosomal recessive disorder caused by mutations in the galactose-1-phosphate uridyl transferase (GALT;EC 2.7.7.10) gene.
  
  
  METHODS
  In the present study, we report molecular analysis of 14 unrelated Iranian galactosemia children with reduced or without GALT activity using PCR-RFLP and SSCP-Sequencing methods.
  
  
  RESULTS
  Q188R mutation was the most observed mutation with the allelic frequency of 57.1%. The allelic frequencies for S135L, Y209S, A320T, and K285N were found to be 7.1%, 7.1%, 7.1%, and 3.57% respectively.
  
  
  CONCLUSIONS
  Our results show that galactosemia is a heterogeneous disorder at the molecular level among the Iranian population.
authors.affiliation: National Institute of Genetic Engineering and Biotechnology, Tehran, IR, Iran. farzanm@nrcgeb.ac.ir
authors.forename: F
authors.initials: F
authors.lastname: Mirzajani
authors.forename: R
authors.initials: R
authors.lastname: Mirfakhraie
authors.forename: F
authors.initials: F
authors.lastname: Nabati
authors.forename: N Naghibzadeh
authors.initials: NN
authors.lastname: Tabatabaei
authors.forename: E
authors.initials: E
authors.lastname: Talachian
authors.forename: M
authors.initials: M
authors.lastname: Houshmand
mesh_terms: D005693:Galactosemias / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D007492:Iran; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase