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Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency

Cited 5 time in Web of Science Cited 9 time in Scopus
Authors
Ko, Dae-Hyun; Chang, Ho Eun; Park, Kyoung Un; Song, Sang Hoon; Song, Young-Han; Lee, Dong Hwan; Song, Junghan; Hong, Yong Hee; Kim, Min-Chang; Kim, Jin Q
Issue Date
2010-10-09
Publisher
ELSEVIER SCIENCE BV
Citation
CLINICA CHIMICA ACTA; Vol.411 19-20; 1506-1510
Keywords
Galactose-1-phosphate uridyltransferaseGalactosemiaMutation
Abstract
Background: Three different types of galactosemia have been described, and the most common form occurs due to a deficiency in the galactose-1-phosphate uridyltransferase (GALT) enzyme activity. Methods: To investigate the molecular defects of the GALT gene, PCR-direct sequencing was performed with genomic DNA from 18 Korean patients with reduced GALT activity. Results: Of the 18 patients tested, 13 (72.2%) had previously reported variants: Duarte variant (12 patients), p.R201H (1 patient), and g.A1962G. In addition, we identified six novel sequence variations by PCR-direct sequencing: five sequence variations in coding regions (p.H31R, p.L116I, p.Q169H. p.H186P and p.R333R), and one in an intron (g.2621A>G). Of 100 normal individuals tested, 4 were heterozygous for the Duarte variant, which indicates a Duarte allele frequency of 2%. Biochemical characteristics of the novel genetic alterations were determined: enzyme activity for exonic alterations and splicing for intron. Conclusion: The genetic constitution of the GALT gene is responsible for galactosemia in the Korean population. (C) 2010 Elsevier B.V. All rights reserved.
ISSN
0009-8981
Language
English
URI
http://hdl.handle.net/10371/76256
DOI
https://doi.org/10.1016/j.cca.2010.06.008
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College of Medicine/School of Medicine (의과대학/대학원)Laboratory Medicine (검사의학전공)Journal Papers (저널논문_검사의학전공)
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