A Simple PCR-Heteroduplex Screening Method for Detection of a Common Mutation of the Catalase Gene in Hungary

[摘要] The enzyme catalase (EC 1.11.1.6) has a predominant role in controlling the concentration of hydrogen peroxide in human erythrocytes (1). Hydrogen peroxide is involved in physiological processes, but its increased concentration may contribute to the pathogenesis of various diseases, such as diabetes and atherosclerosis. Human erythrocytes with high catalase content provide a general defense against toxic concentrations of hydrogen peroxide (2)(3). Hypocatalasemia is the heterozygous state of the acatalasemia gene and is inherited as an autosomal, recessive trait without any characteristic clinical sign. The frequency of hypocatalasemia in East Asia is 0.2–0.4%, whereas in two Iranian populations it is 0.5% (4)(5). There are only limited data available on the disease-causing mutations. The splicing mutation (guanine-to-adenine substitution) at the fifth position of intron 4 and the 358T deletion in exon 4 have been detected in five Japanese patients (6)(7)(8).We have reported on nine hypocatalasemic families for the first time in Hungary (9). The frequency of inherited hypocatalasemia is 0.18% in Hungary (9). The syndrome-causing mutations detected in Japanese patients (6) …

[学科分类] 过敏症与临床免疫学