人类无过氧化氢酶血症的携带状态。
Carrier state in human acatalasemia.
作者信息
NISHIMURA E T, HAMILTON H B, KOBARA T Y, TAKAHARA S, OGURA Y, DOI K
出版信息
Science. 1959 Aug 7;130(3371):333-4. doi: 10.1126/science.130.3371.333.
PMID:13668563
Abstract
The heterozygous carrier state of a rare hereditary disease, acatalasemia, has been defined biochemically. Affected homozygotes have no blood catalase activity, whereas heterozygotes show activities intermediate between this inactivity and the activity of normal controls, without overlap. Pedigrees show a high frequency of consanguineous marriages.
摘要
一种罕见的遗传性疾病——无过氧化氢酶血症的杂合子携带状态已通过生化方法得以界定。患病的纯合子没有血液过氧化氢酶活性，而杂合子的活性介于这种无活性与正常对照的活性之间，且无重叠。家系显示近亲结婚的频率很高。
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