Skip to main content

Advertisement

Table 1 Genotype distribution of three nucleotide variations in the promoter region of GALK1 gene and their galactokinase values in 63 subjects

From: A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype

Nucleotide substitution Genotype No. Galactokinase value (nmol/min/gHb) Normalized GALK1 value
    mean ± SD p value* mean ± SD p value*
c.-179A>G A/A 56 117.2 ± 41.7 0.012 1.39 ± 2.06 0.001
  A/G 5 82.6 ± 23.2   0.99 ± 0.13  
  G/G 2 73.8 ± 11.8   0.78 ± 0.10  
c.-27A>C A/A 61 112.1 ± 41.7 0.173 1.34 ± 0.46 0.473
  A/C 2 141.4 ± 27.4   1.47 ± 0.27  
  C/C 0 -   -  
c.-22T>C T/T 50 96.1 ± 24.3 <0.001 1.16 ± 0.25 <0.001
  T/C 12 176.9 ± 26.9   2.06 ± 0.30  
  C/C 1 193.6   2.30  
  1. p value was determined by SPSS 12.0 by Mann-Whitney test