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患有遗传性半乳糖激酶缺乏症个体的培养细胞的胸苷激酶活性。

Thymidine-kinase activity of cultured cells from individuals with inherited galactokinase deficiency.

作者信息

Schoen R C, Cox S H, Wagner R P

出版信息

Am J Hum Genet. 1984 Jul;36(4):815-22.

Abstract

Cells of a person homozygous for galactokinase deficiency and of her heterozygous parents were found to be deficient in the enzyme thymidine kinase. The decrease in thymidine-kinase activity may be the result of a qualitative alteration in the enzyme molecule. This is reflected in the apparent alteration in the sensitivity of the enzyme to trifluorothymidine. It is suggested that this relationship between the galactokinase and thymidine kinase is not fortuitous but a reflection of their interdependence as found previously in the Chinese hamster.

摘要

患有半乳糖激酶缺乏症的纯合子个体及其杂合子父母的细胞被发现缺乏胸苷激酶。胸苷激酶活性的降低可能是酶分子发生定性改变的结果。这反映在该酶对三氟胸苷的敏感性明显改变上。有人认为,半乳糖激酶和胸苷激酶之间的这种关系并非偶然,而是如先前在中国仓鼠中所发现的那样,反映了它们之间的相互依赖性。

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