Clinical Neuroscience

[Mutation analysis of alpha-galactosidase A gene in Hungarian Fabry patients]

LÁSZLÓ Aranka1, TÖRÖK László2, RAFFAI Sarolta2, TÖRÖK Éva2, SALLAY Éva1, ENDREFFY Emőke1, MORVAI László1, AMSTEL Ploos Van JK3

JANUARY 30, 2012

Clinical Neuroscience - 2012;65(01-02)

[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.]

AFFILIATIONS

  1. Department of Pediatrics, University of Szeged, Albert Szent-Györgyi Medical Centre, Szeged
  2. Department of Dermatology, County Hospital, Kecskemét
  3. Department of Medical Genetics, DNA-Diagnostic Laboratory, University Medical Center Utrecht, The Netherlands

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