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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
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BMC Medical Genetics

ISSN: 1471-2350

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