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

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

Research output: Contribution to journalArticle

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
JournalIdeggyógyászati szemle
Volume65
Issue number1-2
Publication statusPublished - Jan 30 2012

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alpha-Galactosidase
Mutation
Genes
Exons
Aspartic Acid
Codon
Introns
Tyrosine
Polymerase Chain Reaction

Keywords

  • Hungarian Fabry patients
  • Mutation analysis of alpha-galactosidase A gene

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

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

Mutation analysis of alpha-galactosidase A gene in Hungarian fabry patients. / László, Aranka; Török, László; Raffai, Sarolta; Török, Éva; Sallay, Éva; Endreffy, E.; Morvai, László; Van Amstel, J. K Ploos.

In: Ideggyógyászati szemle, Vol. 65, No. 1-2, 30.01.2012, p. 35-39.

Research output: Contribution to journalArticle

László, A, Török, L, Raffai, S, Török, É, Sallay, É, Endreffy, E, Morvai, L & Van Amstel, JKP 2012, 'Mutation analysis of alpha-galactosidase A gene in Hungarian fabry patients', Ideggyógyászati szemle, vol. 65, no. 1-2, pp. 35-39.
László A, Török L, Raffai S, Török É, Sallay É, Endreffy E et al. Mutation analysis of alpha-galactosidase A gene in Hungarian fabry patients. Ideggyógyászati szemle. 2012 Jan 30;65(1-2):35-39.
László, Aranka ; Török, László ; Raffai, Sarolta ; Török, Éva ; Sallay, Éva ; Endreffy, E. ; Morvai, László ; Van Amstel, J. K Ploos. / Mutation analysis of alpha-galactosidase A gene in Hungarian fabry patients. In: Ideggyógyászati szemle. 2012 ; Vol. 65, No. 1-2. pp. 35-39.
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