title: Genetic heterogeneity in acatalasemia.
abstract: 203 bp long products containing exon 4 and its junctions from the catalase gene were generated by polymerase chain reaction (PCR). These products were analyzed by single strand conformational polymorphism (SSCP), hetero-duplex formation and nucleotide sequencing. No polymorphism was detected when the Hungarian acatalasemic 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 acatalasemia.
authors.affiliation: Department of Clinical Chemistry, Medical School, University of Debrecen, Hungary. goth@kki.dote.hu
authors.forename: L
authors.initials: L
authors.lastname: Góth
authors.forename: A
authors.initials: A
authors.lastname: Páy
mesh_terms: D020642:Acatalasia; D002374:Catalase / Q000097:blood; D004247:DNA; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D009692:Nucleic Acid Heteroduplexes; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D009692:Nucleic Acid Heteroduplexes; D004247:DNA; D002374:Catalase