Table 3.
Gene | ODN | Alleles: WT or mut |
Allele | Sequences (5′ – 3′ strands), 26 bp |
Prediction | Experiments | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
-lnKD | δ | -lnKD | δ | KD, nM | ka, M− 1 s− 1 | kd, s− 1 | t1/2, min | |||||
HbB |
1 2 |
WT rs34500389:T |
-32c > T |
agggctgggcataaaagtcagggcag agggctgggTataaaagtcagggcag |
19.20 20.18 |
+ 0.98 |
16.81 17.26 |
+ 0.45 |
50 ± 7 32 ± 3 |
(1.4 ± 0.1)*104 2.1 ± 0.1*104 |
(7.1 ± 0.7)*10−4 (6.6 ± 0,5)*10− 4 |
16 ± 2 17 ± 2 |
HbZ |
3 4 |
WT rs113180943:A |
-29 t > A |
agctccctgtatataaggggaccctg agctccctgtaAataaggggaccctg |
20.76 19.28 |
−1.48 |
18.93 17.03 |
−1.90 |
6 ± 1 40 ± 20 |
(4.5 ± 0.4) *104 (2.3 ± 0,2)*103 |
3.0 ± 0.6)*10−4 (1.0 ± 0.4)*10− 4 |
38 ± 4 115 ± 15 |
EPOR | 5 | WT | cacgtcatctatttttgtctgctacg | 18.24 | 15.59 | 170 ± 30 | (2.8 ± 0,3)*103 | (4.6 ± 0.6)*10−4 | 25 ± 3 | |||
6 | rs1006576690:A | -27 t > A | cacgtcatctatAtttgtctgctacg | 19.39 | + 1.15 | 18.33 | + 2.74 | 11 ± 3 | (9.3 ± 0,7)*103 | (1.0 ± 0.3)*10−4 | 115 ± 15 | |
7 | rs971717705:G | -29a > G | cacgtcatctGtttttgtctgctacg | 18.11 | −0.13 | 15.71 | + 0.12 | 150 ± 30 | (2.4 ± 0,3)*103 | (3.6 ± 0.5)*10−4 | 32 ± 4 | |
8 | rs567946217:A | -31c > A | cacgtacatAttttttgtctgctacg | 19.33 | + 1.09 | 17.68 | + 2.09 | 21 ± 6 | (6.8 ± 0.7)*103 | (1.4 ± 0.4)*10−4 | 82 ± 6 | |
9 | rs567946217:G | -31c > G | cacgtсatGtatttttgtctgctacg | 18.51 | + 0.27 | 16.34 | + 0.75 | 80 ± 10 | (3.6 ± 0.3)*103 | (3.0 ± 0.5)*10−4 | 38 ± 4 |
ODN Oligodeoxyribonucleotide; WT Ancestral allele; mut Minor allele; KD Equilibrium dissociation constant, which is presented as mean ± standard deviation; δ, the difference between the affinity of TBP for an ODN with and without the SNP in its TATA box expressed as natural logarithms, δ = −ln (KD,Mut) – [−ln (KD,WT)]; ka and kd, association and dissociation rate constants, respectively; t1/2 = ln2/kd, the average half-life of the TBP/ODN complexes; HBB β-globin gene; HBZ Zeta-globin gene; and EPOR Erythropoietin receptor gene