Further characterization of Hungarian acatalasemia by Hinf1 polymorphism of catalase gene.
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.
Góth
L
L
Department of Pathology, Stanford University, Calif.
Alizadeh
B N
BN
Sussman
H H
HH
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
D002374:Catalase; D015252:Deoxyribonucleases, Type II Site-Specific; C032229:GANTC-specific type II deoxyribonucleases