Mutation analysis of alpha-galactosidase A gene in Hungarian fabry patients

Aranka László, László Török, Sarolta Raffai, Éva Török, Éva Sallay, Emoke Endreffy, László Morvai, J. K.Ploos Van Amstel

Research output: Article

Abstract

Aim: was to detect the mutations of alpha-galadosidase 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.

Original languageEnglish
Pages (from-to)35-39
Number of pages5
JournalIdeggyogyaszati szemle
Volume65
Issue number1-2
Publication statusPublished - jan. 30 2012

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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  • Cite this

    László, A., Török, L., Raffai, S., Török, É., Sallay, É., Endreffy, E., Morvai, L., & Van Amstel, J. K. P. (2012). Mutation analysis of alpha-galactosidase A gene in Hungarian fabry patients. Ideggyogyaszati szemle, 65(1-2), 35-39.