S-Space College of Medicine/School of Medicine (의과대학/대학원) Laboratory Medicine (검사의학전공) Journal Papers (저널논문_검사의학전공)
Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency
- Park, Hyung-Doo; Bang, You-Lim; Park, Kyoung Un; Kim, Jin Q; Jeong, Byung-Hoon; Kim, Yong-Sun; Song, Young-Han; Song, Junghan
- Issue Date
- Academic Press
- Mol Genet Metab. 2007 Jul;91(3):234-8. Epub 2007 May 22.
- Alleles; Animals; COS Cells; Cercopithecus aethiops; Galactokinase/deficiency/*genetics; Heterozygote; Humans; Infant, Newborn; Korea; Mutagenesis, Insertional; Mutation, Missense
- Galactokinase (GALK) deficiency is an autosomal recessive disorder characterized by elevation of blood galactose concentration and diminished galactose-1-phosphate, leading to the production of galactitol. To investigate the molecular defects of GALK1 gene and the biochemical characteristics of their mutant proteins, PCR-direct sequencing and in vitro expression analysis in Cos7 cells were performed in five Korean patients with GALK deficiency galactosemia. Four missense mutations (p.G137R, p.R256W, p.R277Q, and p.V281M) and one small insertion (c.850_851insG) were identified. Among four patients with severely reduced GALK activity, two were found to be homozygotes for p.R256W and the other two were compound heterozygotes for different molecular defects (p.G137R/p.R277Q and p.V281M/c.850_851insG). One Patient with moderately decreased GALK activity was heterozygous for p.R256W. Expression analysis in Cos7 cells confirmed that each of the mutations resulted in reduction of GALK activity and caused GALK deficiency.
- 1096-7192 (Print)
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