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