title: Further characterization of Hungarian acatalasemia by Hinf1 polymorphism of catalase gene.
abstract: An Hinf1 associated restriction length polymorphism pattern is reported for the catalase gene of Hungarian normocatalasemic individuals and acatalasemic patients. The 2.4-kb pCAT 10 probe revealed 9 bands (2.1, 1.5, 1.2, 1.1, 0.9, 0.8, 0.6, 0.5 and 0.4 kb) with 9 distinct patterns for the controls. The same patterns were detected for the Hungarian acatalasemic patients. The examination of the A to T mutation of the Hungarian acatalasemic patients and their relatives at position -21 in the flanking region with Hinf1 polymorphism could not reveal any difference between the acatalasemic and the normocatalasemic catalase gene.
authors.affiliation: Department of Pathology, Stanford University, Calif.
authors.forename: L
authors.initials: L
authors.lastname: Góth
authors.forename: B N
authors.initials: BN
authors.lastname: Alizadeh
authors.forename: H H
authors.initials: HH
authors.lastname: Sussman
mesh_terms: D020642:Acatalasia; D001483:Base Sequence; D015139:Blotting, Southern; D002374:Catalase / Q000235:genetics*; D003001:Cloning, Molecular; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D006814:Hungary; D007564:Japan; D007962:Leukocytes / Q000378:metabolism; D008099:Liver / Q000201:enzymology; D008297:Male; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D014162:Transfection
chemical_list: D002374:Catalase; D015252:Deoxyribonucleases, Type II Site-Specific; C032229:GANTC-specific type II deoxyribonucleases