发现过氧化氢酶血症（血液中缺乏过氧化氢酶）及其在人类遗传学中的意义。

IF 4.4 3区综合性期刊 Q1 MULTIDISCIPLINARY SCIENCES

Proceedings of the Japan Academy. Series B, Physical and Biological Sciences Pub Date : 2024-01-01 DOI:10.2183/pjab.100.024

Mizuo Ando, Kunihiro Fukushima, Kazunori Nishizaki

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引用次数: 0

摘要

过氧化氢酶是一种含血红素的抗氧化酶，曾被认为是人类生存的必需品。它广泛分布于人体内，在红细胞中含量尤其丰富。1951 年，"过氧化氢酶血症"（acatalasemia）一词首次出现在《日本科学院院刊》上，引起了全球对过氧化氢酶基因缺乏家庭的关注。过氧化氢酶缺乏症不仅改变了过氧化氢酶的意义，而且在遗传学方法有限的时代，在人类遗传学中发挥了先驱作用。在本文中，我们将探讨一位耳鼻喉科医生在为一名 11 岁女孩进行手术时发现的过氧化氢酶血症。这一非凡的历程引发了横跨生物化学、血液学和人类遗传学的划时代研究。

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The discovery of acatalasemia (lack of catalase in the blood) and its significance in human genetics.

Catalase, a heme-containing antioxidant enzyme, was once considered essential for human survival. It is widely distributed in the human body and is particularly abundant in red blood cells. The term "acatalasemia" first appeared in the Proceedings of the Japan Academy in 1951, drawing global attention to families genetically deficient in catalase. This deficiency not only altered the significance of catalase but also played a pioneering role in human genetics during an era of limited genetic methodology. In this article, we examine the discovery of acatalasemia by an otolaryngologist during surgery on an 11-year-old girl. This remarkable journey led to epoch-making research spanning biochemistry, hematology, and human genetics.

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来源期刊

Proceedings of the Japan Academy. Series B, Physical and Biological Sciences 生物-综合性期刊

CiteScore

6.60

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： The Proceedings of the Japan Academy Ser. B (PJA-B) is a scientific publication of the Japan Academy with a 90-year history, and covers all branches of natural sciences, except for mathematics, which is covered by the PJA-A. It is published ten times a year and is distributed widely throughout the world and can be read and obtained free of charge through the world wide web.