Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Nat Genet 1995 Jul;10(3):307-12
Date
07/01/1995Pubmed ID
7670469DOI
10.1038/ng0795-307Scopus ID
2-s2.0-0029011131 (requires institutional sign-in at Scopus site) 87 CitationsAbstract
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.
Author List
Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJAuthor
Danielle Sidjanin Maier PhD Nurse Practitioner in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdultAmino Acid Sequence
Bacteria
Base Sequence
Cataract
Cell Line
Cloning, Molecular
DNA Primers
DNA, Complementary
Female
Galactokinase
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Molecular Sequence Data
Mutation
Sequence Homology, Amino Acid
Species Specificity
