Table 1.
DNA sequence variations observed among Gilbert’s syndrome patients and normal controls
| Location of variant and nucleotide position (np) | Description of variant1 | Genotype/Allele frequency (p) | Patients (%) | Control (%) |
| UGT1*1 promoter | CAT insertion | Insertion/Insertion | 3 | 0 |
| nps -85 to -83 | Insertion/non-insertion | 6 | 0 | |
| Non-insertion/non-insertion | 86 | 95 | ||
| p(Insertion) | 0.063 | 0.000 | ||
| UGT1*1 promoter | G→C | GG | 93 | 95 |
| np -63 | GC | 2 | 0 | |
| p(C) | 0.011 | 0.000 | ||
| UGT1*1 promoter | (TA)6 TAA→ | (TA)6 TAA /(TA)6 TAA | 4 | 32 |
| nps -53 to -38 | (TA)7 TAA | (TA)7 TAA /(TA)6 TAA | 15 | 53 |
| (TA)7 TAA/(TA)7 TAA | 76 | 10 | ||
| p[(TA)7 TAA] | 0.879 | 0.384 | ||
| Exon 1 | G→A | GG | 85 | 90 |
| np +211 | (G71R) | GA | 9 | 5 |
| AA | 1 | 0 | ||
| p(A) | 0.058 | 0.026 | ||
| Exon 1 | T→C | TT | 93 | 94 |
| np +476 | (I159T) | TC | 2 | 1 |
| p(C) | 0.011 | 0.005 | ||
| Exon 1 | T→C | TT | 94 | 95 |
| np +625 | (R209W) | TC | 1 | 0 |
| p(C) | 0.005 | 0.000 | ||
| Exon 2 | C→G | CC | 95 | 66 |
| np +6 844 | (A321G) | CG | 0 | 29 |
| p(G) | 0.000 | 0.152 | ||
| Exon 2 | A→G | AA | 87 | 89 |
| np +6 846 | (I322V) | AG | 7 | 6 |
| GG | 1 | 0 | ||
| p(G) | 0.042 | 0.032 | ||
| Exon 3 | G→A | GG | 94 | 95 |
| np +7 640 | (D359N) | GA | 1 | 0 |
| p(A) | 0.005 | 0.000 | ||
| Exon 4 | C→T | CC | 93 | 95 |
| np +7 939 | (P364L) | CT | 2 | 0 |
| p(T) | 0.011 | 0.000 | ||
| Exon 4 | A→G | AA | 92 | 95 |
| np +7 975 | (H376R) | AG | 3 | 0 |
| p(G) | 0.016 | 0.000 |
1
Amino acid changes resulting from nucleotide changes in the exons are indicated in parentheses.