Nature Genetics
10, 307 - 312 (1995)
doi:10.1038/ng0795-307
Cloning of the galactokinase cDNA and identification of mutations in two families with cataractsDwight Stambolian1, 2, 4, Yunjun Ai2, Duska Sidjanin2, Kristin Nesburn1, Ganesh Sathe3, Martin Rosenberg3
& Derk J. Bergsma3
1Department of Ophthalmology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
2Department of Genetics, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
3Department of Molecular Genetics, Smith Kline Beecham Pharmaceutical, King of Prussia, Pennsylvania 19046, USA
4Institute for Human Gene Therapy, University of Pennsylvania, BRB-1, Room 305, 422 Curie Blvd., Philadelphia, Pennsylvania 19104, USA Correspondence should be addressed to D. Stambolian4
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 availably of the cloned galactokinase gene provides an important reference to identify mutations in patients with galactokinase deficiency and cataracts.
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