Detection of a common mutation of the catalase gene in Japanese acatalasemic patients

Abstract

Acatalasemia was one of the earliest described genetic enzyme defects. In 1990, a causal point mutation (a splicing mutation) was first reported in a Japanese patient with acatalasemia. In the present study, the polymerase chain reaction and single-strand conformation polymorphism analysis were used to determine whether the same point mutation was present in unrelated Japanese patients. The subjects studied were the previously examined acatalasemic female, her brother, who is hypocatalasemic, and two other unrelated acatalasemic patients. A single G to A point mutation at the fifth position of intron 4, identical to that previously found, was present in all the studied patients. This finding strongly suggests that only a single mutated allele has spread in the Japanese population.

Detection of a novel familial catalase mutation (Hungarian type D) and the possible risk of inherited catalase deficiency for diabetes mellitus

“…Genomic DNA was extracted from leukocytes of 10 family members (4 hypocatalasemics, 6 normocatalasemics) using a QIAmp Blood Kit from Qiagen (Hilden, Germany). The PCR primers for all 13 exons plus a 8-73 nucleotide fragment from both adjoining introns and a 128-nucleotide fragment for the 5' noncoding region and a 132-nucleotide fragment for the 3' noncoding region were the same as those reported by Kishimoto et al [22]. The reagents and primers were purchased from Pharmacia (Pharmacia-Amersham Biosciences, Uppsala, Sweden).…”

Oxidative Damage and Bronchial Asthma

“…The catalase gene is located on chromosome 11p13. There are known different polymorphisms of this enzyme in coding regions (Goth, 1998;Kishimoto et al, 1992) and in non-coding regions as well (Casp et al, 2002;Forsberg et al, 2001;Goth et al, 2005;Kishimoto et al, 1992;Ukkola et al, 2001;Zhou et al, 2005;Wen et al, 1990). A common polymorphism in the promoter region of the catalase gene consists of a C to T substitution at position -262 in the 5' region (Forsberg et al, 2001), which is thought to result in reduced activity.…”

Further Characterization of Hungarian Acatalasemia by Hinf1 Polymorphism of Catalase Gene

“…A similar pat tern was found in control subjects as well. Recently, Kishimoto et al [13] examined 62 alleles of 31 normocatalasemic individuals in Japan for the A to T substitution. A total of 39 A alleles and 23 T type were reported.…”