カンノ　ヒトシ   菅野　仁    所属   医学部 医学科（東京女子医科大学病院）    職種   特任教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	A novel human catalase mutation (358 T-->del) causing Japanese-type acatalasemia.
掲載誌名	正式名：Blood cells, molecules&diseases 略　 称：Blood Cells Mol Dis ISSNコード：1079-9796(Print)1079-9796(Linking)
巻・号・頁	21(3),pp.232-4
著者・共著者	Hirono A, Sasaya-Hamada F, Kanno H, Fujii H, Yoshida T, Miwa S
発行年月	1995/05
概要	Japanese-type acatalasemia is characterized by the almost total loss of catalase activity in red cells and is often associated with ulcerating oral lesions. A splicing mutation in intron 4 of catalase gene has so far been a sole disease-causing mutation found in Japanese-type acatalasemic patients. We report here a novel single base deletion in the catalase gene causing Japanese-type acatalasemia. The patient was a 72 year-old Japanese male. His maternal grandmother and his father were first cousins. Molecular analysis using non-RI PCR-SSCP analysis combined with direct sequencing revealed a deletion of the 358th thymine in exon 4 of the patient's catalase gene. The proband was a homozygote and his mother and his three children were heterozygotes for this mutation. The frame shift caused by the nucleotide deletion should alter the downstream amino acid sequence and introduce a new termination codon TGA 43 bp 3' to the mutation. Although the truncated peptide chain consisted of 133 amino acid residues might be translated in the patient's tissue, such an aberrant protein is expected to be extremely unstable and have no catalytic function at all. Our results suggest that Japanese-type acatalasemia is heterogeneous.
DOI	10.1006/bcmd.1995.0026
文献番号	8673475