Genetic heterogeneity of the 5' uncoding region of the catalase gene in Hungarian acatalasemic and hypocatalasemic subjects

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Abstract

The 5' uncoding region (165 bp), exon 1 (63 bp) and part of intron 1 (20 bp) of the catalase gene was amplified by PCR in acatalasemic (2), hypocatalasemic (19) patients and healthy individuals (10). The single strand conformational polymorphism of PCR products showed a highly polymorphic pattern. This polymorphism was supported by nucleotide sequence analyses yielding eight mutations. They are A to T, C to A and C to T at positions - 21, -20, -18 of the 5' flanking region, T to C at positions 4, 44, 49 of the non-coding region and C to T and C to A at positions 12, 27 of exon 1. Of these nucleotide substitutions, the fourth, fifth, seventh and eighth are novel mutations. The mutations 1, 3, 6, 8 were present at least at heterozygous level in all acatalasemics and hypocatalasemics. None of these mutations may be the causal mutation(s) of acatalasemia as each of these nucleotide substitutions were detected in healthy subjects with normal blood catalase activity.

Original languageEnglish
Pages (from-to)73-78
Number of pages6
JournalClinica Chimica Acta
Volume271
Issue number1
DOIs
Publication statusPublished - Mar 9 1998

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Genetic Heterogeneity
Catalase
Nucleotides
Genes
Polymorphism
Mutation
Exons
Substitution reactions
5' Flanking Region
Acatalasia
Introns
Blood
Polymerase Chain Reaction
Sequence Analysis
Healthy Volunteers

Keywords

  • Acatalasemia
  • Hypocatalasemia
  • Sequence analyses
  • SSCP

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry

Cite this

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title = "Genetic heterogeneity of the 5' uncoding region of the catalase gene in Hungarian acatalasemic and hypocatalasemic subjects",
abstract = "The 5' uncoding region (165 bp), exon 1 (63 bp) and part of intron 1 (20 bp) of the catalase gene was amplified by PCR in acatalasemic (2), hypocatalasemic (19) patients and healthy individuals (10). The single strand conformational polymorphism of PCR products showed a highly polymorphic pattern. This polymorphism was supported by nucleotide sequence analyses yielding eight mutations. They are A to T, C to A and C to T at positions - 21, -20, -18 of the 5' flanking region, T to C at positions 4, 44, 49 of the non-coding region and C to T and C to A at positions 12, 27 of exon 1. Of these nucleotide substitutions, the fourth, fifth, seventh and eighth are novel mutations. The mutations 1, 3, 6, 8 were present at least at heterozygous level in all acatalasemics and hypocatalasemics. None of these mutations may be the causal mutation(s) of acatalasemia as each of these nucleotide substitutions were detected in healthy subjects with normal blood catalase activity.",
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author = "L{\'a}szl{\'o} G{\'o}th",
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T1 - Genetic heterogeneity of the 5' uncoding region of the catalase gene in Hungarian acatalasemic and hypocatalasemic subjects

AU - Góth, László

PY - 1998/3/9

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N2 - The 5' uncoding region (165 bp), exon 1 (63 bp) and part of intron 1 (20 bp) of the catalase gene was amplified by PCR in acatalasemic (2), hypocatalasemic (19) patients and healthy individuals (10). The single strand conformational polymorphism of PCR products showed a highly polymorphic pattern. This polymorphism was supported by nucleotide sequence analyses yielding eight mutations. They are A to T, C to A and C to T at positions - 21, -20, -18 of the 5' flanking region, T to C at positions 4, 44, 49 of the non-coding region and C to T and C to A at positions 12, 27 of exon 1. Of these nucleotide substitutions, the fourth, fifth, seventh and eighth are novel mutations. The mutations 1, 3, 6, 8 were present at least at heterozygous level in all acatalasemics and hypocatalasemics. None of these mutations may be the causal mutation(s) of acatalasemia as each of these nucleotide substitutions were detected in healthy subjects with normal blood catalase activity.

AB - The 5' uncoding region (165 bp), exon 1 (63 bp) and part of intron 1 (20 bp) of the catalase gene was amplified by PCR in acatalasemic (2), hypocatalasemic (19) patients and healthy individuals (10). The single strand conformational polymorphism of PCR products showed a highly polymorphic pattern. This polymorphism was supported by nucleotide sequence analyses yielding eight mutations. They are A to T, C to A and C to T at positions - 21, -20, -18 of the 5' flanking region, T to C at positions 4, 44, 49 of the non-coding region and C to T and C to A at positions 12, 27 of exon 1. Of these nucleotide substitutions, the fourth, fifth, seventh and eighth are novel mutations. The mutations 1, 3, 6, 8 were present at least at heterozygous level in all acatalasemics and hypocatalasemics. None of these mutations may be the causal mutation(s) of acatalasemia as each of these nucleotide substitutions were detected in healthy subjects with normal blood catalase activity.

KW - Acatalasemia

KW - Hypocatalasemia

KW - Sequence analyses

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