Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma D J
Department of Ophthalmology, School of Medicine, University of Pennsylvania, Philadelphia 19104, USA.
Nat Genet. 1995 Jul;10(3):307-12. doi: 10.1038/ng0795-307.
Galactokinase is an essential enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. We have cloned the human galactokinase cDNA, which maps to chromosome 17q24, and show that the isolated cDNA expresses galactokinase activity in bacteria and mammalian cells. We also describe two different mutations in this gene in unrelated families with galactokinase deficiency and cataracts. The availability of the cloned galactokinase gene provides an important reference to identify mutations in patients with galactokinase deficiency and cataracts.
半乳糖激酶是半乳糖代谢所必需的一种酶，其缺乏会导致婴儿期先天性白内障以及成年人群早老性白内障。我们克隆了定位于17号染色体q24区域的人类半乳糖激酶cDNA，并证明分离出的cDNA在细菌和哺乳动物细胞中均表达半乳糖激酶活性。我们还描述了两个无关家族中该基因存在的与半乳糖激酶缺乏和白内障相关的不同突变。克隆的半乳糖激酶基因的获得为鉴定半乳糖激酶缺乏和白内障患者的突变提供了重要参考。
