Genetic heterogeneity in acatalasemia

L. Góth, Anikó Páy

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

203 bp long products containing exon 4 and its juntions from the catalase gene were generated by polymerase chain reaction (PCR). These products were analyzed by single strand conformational polymorphism (SSCP), heteroduplex formation and nucleotide sequencing. No polymorphism was detected when the Hungarian actalasemic sisters, their family members and normocatalasemic controls were analyzed. Sequence analyses did not show the G to A point mutation at position 5 of intron 4. This splicing mutation characterizes the Japanese-type of actalasemia.

Original languageEnglish
Pages (from-to)1302-1303
Number of pages2
JournalElectrophoresis
Volume17
Issue number8
Publication statusPublished - Aug 1996

Fingerprint

Acatalasia
Genetic Heterogeneity
Polymorphism
Point Mutation
Catalase
Introns
Sequence Analysis
Siblings
Exons
Nucleotides
Polymerase Chain Reaction
Mutation
Polymerase chain reaction
Genes

Keywords

  • G to A splicing mutation
  • Heteroduplex
  • Hungarian acatalasemia
  • Nucleotide sequence
  • Single strand conformational polymorphism

ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

Góth, L., & Páy, A. (1996). Genetic heterogeneity in acatalasemia. Electrophoresis, 17(8), 1302-1303.

Genetic heterogeneity in acatalasemia. / Góth, L.; Páy, Anikó.

In: Electrophoresis, Vol. 17, No. 8, 08.1996, p. 1302-1303.

Research output: Contribution to journalArticle

Góth, L & Páy, A 1996, 'Genetic heterogeneity in acatalasemia', Electrophoresis, vol. 17, no. 8, pp. 1302-1303.
Góth, L. ; Páy, Anikó. / Genetic heterogeneity in acatalasemia. In: Electrophoresis. 1996 ; Vol. 17, No. 8. pp. 1302-1303.
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