title: Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.
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.
  
  
  CONCLUSIONS
  The genetic constitution of the GALT gene is responsible for galactosemia in the Korean population.
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, South Korea.
authors.forename: Dae-Hyun
authors.initials: DH
authors.lastname: Ko
authors.forename: Ho Eun
authors.initials: HE
authors.lastname: Chang
authors.forename: Sang Hoon
authors.initials: SH
authors.lastname: Song
authors.forename: Kyoung Un
authors.initials: KU
authors.lastname: Park
authors.forename: Jin Q
authors.initials: JQ
authors.lastname: Kim
authors.forename: Min-Chang
authors.initials: MC
authors.lastname: Kim
authors.forename: Young-Han
authors.initials: YH
authors.lastname: Song
authors.forename: Yong Hee
authors.initials: YH
authors.lastname: Hong
authors.forename: Dong Hwan
authors.initials: DH
authors.lastname: Lee
authors.forename: Junghan
authors.initials: J
authors.lastname: Song
mesh_terms: D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005693:Galactosemias / Q000209:etiology / Q000235:genetics*; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics; D007723:Korea; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency* / Q000235:genetics*
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase