title: Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.
abstract: AIM was to detect the mutations of alpha-galactosidase A gene in two Hungarian Fabry patients.
  
  
  METHODS
  Mutation analysis was performed by polymerase chain reaction (PCR) sequencing of the seven exons and adjacent introns of the alpha-galactosidase A gene.
  
  
  RESULTS
  Case 1. (19 y. male patient) Mutation analysis was done for alpha-galactosidase gene, a missence mutation has been identified in the 5th exon, the aspartic acid at codon 266 has been substituted by a tyrosine (notation D266Y) due to a G-T transversion at position 10287 of the alpha GAL-A gene. Case 2. (28 y. male Fabry patient) The GAL-A mutation has been proven to be R220X mutation in exon 5 of the alpha-galactosidase A gene.
authors.affiliation: Department of Pediatrics, University of Szeged, Albert Szent-Györgyi Medical Centre, Szeged. laszloar@pedia.szote.u-szeged.hu
authors.forename: Aranka
authors.initials: A
authors.lastname: László
authors.forename: László
authors.initials: L
authors.lastname: Török
authors.forename: Sarolta
authors.initials: S
authors.lastname: Raffai
authors.forename: Eva
authors.initials: E
authors.lastname: Török
authors.forename: Eva
authors.initials: E
authors.lastname: Sallay
authors.forename: Emoke
authors.initials: E
authors.lastname: Endreffy
authors.forename: László
authors.initials: L
authors.lastname: Morvai
authors.forename: J K Ploos
authors.initials: JK
authors.lastname: van Amstel
mesh_terms: D000328:Adult; D001224:Aspartic Acid; D003062:Codon; D004252:DNA Mutational Analysis; D005091:Exons; D000795:Fabry Disease / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D014443:Tyrosine; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D003062:Codon; D001224:Aspartic Acid; D014443:Tyrosine; D000519:alpha-Galactosidase