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Table 2 Complex non-coding haplotypes found in male patients with suspicion of FD and population frequency in The 1000 Genomes Project

From: Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients

 

DNA Region

Variant / Haplotype

Enzyme Activity (μmol/L/h)

Patients

The 1000 Genomes

Mean

Range

N = 624

%

N = 1233

%

 

Without GLA variants

Without intronic variants

1.76

0.09–2.2

335

53.7

705

57.1

Variant 1

5’UTR

c.-30G > A

1.60

1

0.16

2

0.16

Variant 2

5’UTR

c.-10C > T

1.72

1.13–2.10

6

0.74

1

0.08

Variant 3

Intron 1

c.194 + 17A > G

2.11

1

0.16

28

2.27

Variant 4

Intron 6

c.1000-22C > T

1.76

0.60–2.19

58

9.29

147

11,92

Haplotype 1

5’UTR / intron 6

c.-12G > A / c.1000-22C > T

1.11

0.80–1.42

2

0.32

1

0.08

Haplotype 2

5’UTR / intron4 / intron 6

c.-12G > A / c.639 + 68 A > G / c.1000-22C > T

1.64

0.90–2.20

23

3.68

127

10.3

Haplotype 3

5’UTR / intron 2 / intron 4

c.-12G > A / c.370-77_370-81delCAGCC / c.640-16A > G

0

0

1

0.08

Haplotype 4

5’UTR / intron 2

c.-10C > T / c.370-77_370-81delCAGCC

0

0

1

0.08

Haplotype 5

5’UTR / intron 6

c.-10C > T / c.1000-22C > T

1.81

0.17–2.20

59

9.45

31

2.51

Haplotype 6

5’UTR / intron 4 / intron 6

c.-10C > T / c.640-16A > G / c.1000-22C > T

2.07

1

0.16

4

0.32

Haplotype 7

5’UTR / intron 2 / intron 4 / intron 6

c.-10C > T / c.370-77_370-81delCAGCC / c.640-16A > G / c.1000-22C > T

1.72

0.70–2.20

107

17.14

125

10.14

Haplotype 8

5’UTR / intron 2 / intron 4 / intron 5 / intron 6

c.-10C > T / c.370-77_370-81delCAGCC / c.640-16A > G / c.802-67G > A / c.1000-22C > T

2.07

1

0.16

0

0

Haplotype 9

intron 2 / intron 4 / intron 6

c.370-77_370-81delCAGCC / c.640-16A > G / c.1000-22C > T

1.68

0.77–2.20

30

4.8

60

4.87