1. Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.
- Author
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László A, Török L, Raffai S, Török E, Sallay E, Endreffy E, Morvai L, and van Amstel JK
- Subjects
- Adult, Aspartic Acid, Codon, Exons, Humans, Male, Polymerase Chain Reaction, Tyrosine, DNA Mutational Analysis, Fabry Disease enzymology, Fabry Disease genetics, Mutation, Missense, alpha-Galactosidase genetics
- Abstract
Unlabelled: 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.
- Published
- 2012