Further genetic heterogeneity in acatalasemia

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

A T-deletion at position 10 of exon 4 for catalase gene was reported as a novel mutation, causing a new genetic type of acatalasemia in Japan. This mutation, destroying a Hinf1 recognition site, was searched for in Hungarian acatalasemic (2) and hypocatalasemic (22) patients and in controls (27) by Hinf1 digestion and sequence analyses of a 203 bp polymerase chain reaction (PCR) product containing the entire exon 4. The Hinf1 polymorphism did not reveal any difference between controls and hypocatalasemic as well as acatalasemic patients. These results were confirmed by sequence analyses showing the T nucleotide for the two acatalasemic and for one unrelated hypocatalasemic patient, as well as for two controls. These findings represent further evidence that acatalasemia is heterogeneous at the DNA level.

Original languageEnglish
Pages (from-to)1942-1943
Number of pages2
JournalElectrophoresis
Volume18
Issue number11
Publication statusPublished - 1997

Fingerprint

Acatalasia
Genetic Heterogeneity
Sequence Analysis
Exons
Mutation
Polymerase chain reaction
Polymorphism
Reaction products
Catalase
Digestion
Japan
Nucleotides
Genes
Polymerase Chain Reaction
DNA

Keywords

  • Hungarian acatalasemia
  • Hypocatalasemia
  • Polymerase chain reaction
  • Sequence analysis

ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

Further genetic heterogeneity in acatalasemia. / Góth, L.

In: Electrophoresis, Vol. 18, No. 11, 1997, p. 1942-1943.

Research output: Contribution to journalArticle

Góth, L. / Further genetic heterogeneity in acatalasemia. In: Electrophoresis. 1997 ; Vol. 18, No. 11. pp. 1942-1943.
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