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  • 标题:D266Y - a new alpha galactosidase A gene mutation detected in a Hungarian family with Fabry disease - Experimental and theoretical investigation
  • 作者:Balazs JOJART ; Bela VISKOLCZ ; Imre G. CSIZMADIA
  • 期刊名称:Philosophic Nature
  • 印刷版ISSN:0974-4215
  • 电子版ISSN:0974-4231
  • 出版年度:2009
  • 卷号:1
  • 期号:01
  • 页码:33-42
  • 出版社:Excogitation & Innovation Laboratory
  • 摘要:Fabry disease is an X-linked recessive hereditary disorder due to a defect of a lysosomal hydrolase alpha-galactosidaseA (EC.3.2.1.22). There is high degree molecular heterogenity of alpha-galactosidase A gene (GLA) deficiency. In thispaper we report the mutation of the alpha-galactosidase A gene detected in a Hungarian Fabry patient. Mutationanalysis was performed by polymerase chain reaction (PCR) sequencing of the seven exons and adjacent introns ofthe alpha-galactosidase A gene. The alteration of the active site was investigated in wild type (WT) and mutant(MT) enzymes by comparative molecular docking procedures. The newly described D266Y missense mutation hasbeen identified in exon 5, causing a substitution of the aspartic acid at codon 266 by a tyrosine residue due to a G-Ttransversion at position 10287 of the alpha GAL- A gene. The theoretical calculations revealed some steric inhibition;the binding free energy increased (lowering the stability) significantly in MT form with respect to WT enzyme.
  • 关键词:Fabry disease ; pheno- genotype analysis ; comparative docking computations
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