Literature DB >> 7916241

Further characterization of Hungarian acatalasemia by Hinf1 polymorphism of catalase gene.

L Góth1, B N Alizadeh, H H Sussman.   

Abstract

An Hinf1 associated restriction length polymorphism pattern is reported for the catalase gene of Hungarian normocatalasemic individuals and acatalasemic patients. The 2.4-kb pCAT 10 probe revealed 9 bands (2.1, 1.5, 1.2, 1.1, 0.9, 0.8, 0.6, 0.5 and 0.4 kb) with 9 distinct patterns for the controls. The same patterns were detected for the Hungarian acatalasemic patients. The examination of the A to T mutation of the Hungarian acatalasemic patients and their relatives at position -21 in the flanking region with Hinf1 polymorphism could not reveal any difference between the acatalasemic and the normocatalasemic catalase gene.

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Year:  1993        PMID: 7916241     DOI: 10.1159/000468671

Source DB:  PubMed          Journal:  Enzyme Protein        ISSN: 1019-6773


  1 in total

Review 1.  Catalase enzyme mutations and their association with diseases.

Authors:  László Góth; Péter Rass; Anikó Páy
Journal:  Mol Diagn       Date:  2004
  1 in total

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