A novel catalase mutation detected by polymerase chain reaction-single strand conformation polymorphism, nucleotide sequencing, and western blot analyses is responsible for the type C of Hungarian acatalasemia

L. Góth, Péter Rass, Irén Madarasi

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) screening was used for searching mutations of the catalase gene in two Hungarian hypocatalasemic families. A syndrome-causing mutation was found in a PCR product containing exon 7 and its boundaries. Nucleotide sequence analyses detected a G to T substitution at position 5 of intron 7. The effect of this splice site mutation was confirmed by Western blot analyses demonstrating a decreased catalase protein level in these patients. These findings represent a novel type (C) of catalase mutations in the Hungarian acatalasemic/hypocatalasemic patients.

Original languageEnglish
Pages (from-to)49-51
Number of pages3
JournalElectrophoresis
Volume22
Issue number1
DOIs
Publication statusPublished - 2001

Fingerprint

Acatalasia
Polymerase chain reaction
Polymorphism
Catalase
Conformations
Nucleotides
Western Blotting
Polymerase Chain Reaction
Mutation
Introns
Exons
Screening
Substitution reactions
Genes
Sequence Analysis
Proteins

Keywords

  • Hungarian acatalasemia
  • Nucleotide sequence
  • Polymerase chain reaction
  • Single-strand conformation polymorphism
  • Splicing mutation

ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

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abstract = "Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) screening was used for searching mutations of the catalase gene in two Hungarian hypocatalasemic families. A syndrome-causing mutation was found in a PCR product containing exon 7 and its boundaries. Nucleotide sequence analyses detected a G to T substitution at position 5 of intron 7. The effect of this splice site mutation was confirmed by Western blot analyses demonstrating a decreased catalase protein level in these patients. These findings represent a novel type (C) of catalase mutations in the Hungarian acatalasemic/hypocatalasemic patients.",
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AU - Rass, Péter

AU - Madarasi, Irén

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