Table 1
List of primers used for sequencing of the UGT1A1 coding and nearby intronic regions.
| Primer | Sequences (5’>3’) | Temperature Annealing (°C) |
|---|---|---|
| UGT1A1: ex1-1F | GCT ACC TTT GTG GAC TGA CAG C | 60 |
| UGT1A1: ex1-1R | CCA TGA GCT CCT TGT TGT GCA G | |
| UGT1A1: ex1-2F | GCC ATT CCA AAG GGA GGA TG | 57 |
| UGT1A1: ex1-2R | GAT GAT GCC AAA GAC AGA CTC AAA C | |
| UGT1A1: int1ex2F | CTG TAA GCA GGA AAC CCT TCC TC | 58 |
| UGT1A1: int1ex2R | GGA TTA ATA GTT GGG AAG TGG CAG G | |
| UGT1A1: ex3F | AAG TTG CCA GTC CTC AGA AGC | 60 |
| UGT1A1: ex3R | TGT TAC TCA CAT GCC CTT GCA G | |
| UGT1A1: ex4int4F | TGC AAG GGC ATG TGA GTA ACA C | 58 |
| UGT1A1:ex4int4R | GCA CTC CAG CCT AGG TGA C | |
| UGT1A1: ex5F | CAG GTT TCC TTT CCC AAG TTT GG | 58 |
| UGT1A1: ex5R | CAC TCT GGG GCT GAT TAA TTT ATG C |
Figure 1
(a) UGT1A1 (TA)n promoter PCR products on 15.0% acrylamide gel electrophoresis stained with Ag-nitrate. Wells 1 and 4: 6/6 TA repeats (71 bp); well 2: 7/7 TA repeats (73 bp); well 5: 6/7 TA repeats (71 and 73 bp); well 3: 5 bp DNA ladder. (b) Electophoretograms obtained with fragment length analysis of UGT1A1 (TA)n promoter repeats. The upper peak is 7/7 TA repeats (102 bp); the lower peak is 6/6 TA repeats (100 bp). (c) Electophoretogram obtained with sequencing analysis of promoter of UGT1A1 gene with 6/6 TA repeats. (d) Electophoretogram obtained with sequencing analysis of promoter of UGT1A1 gene with 7/7 TA repeats.
Table 2
The distribution of UGT1A1 (TA)n promoter repeats in Gilbert syndrome patients and control groups.
| GS Patients (n = 51) | Controls (n = 100) | ||||
|---|---|---|---|---|---|
| Repeats | n | % | Repeats | n | % |
| 6/6 | 2 | 3.92 | 6/6 | 37 | 37.0 |
| 6/7 | 8 | 15.87 | 6/7 | 47 | 47.0 |
| 7/7 | 39 | 76.47 | 7/7 | 16 | 16.0 |
| 7/8 | 2 | 3.92 | 7/8 | 0 | 0.0 |
Table 3
Levels of unconjugated bilirubin in pediatric Gilbert syndrome patients.
| Parameters | Unconjugated Bilirubin in GS Risk Group (μmol/L)a | Unconjugated Bilirubin in GS Non-Risk Group (μmol/L)a | p Valuesb |
|---|---|---|---|
| At diagnosis | 27.51 ± 19.16 | 16.92 ± 7.57 | 0.079 |
| After hypocaloric test | 62.02 ± 43.85 | 41.40 ± 14.67 | 0.240 |
| After phenobarbitone test | 18.01 ± 14.57 | 14.23 ± 6.71 | 0.626 |
GS: Gilbert syndrome.
Figure 2
Median and interquartile range of ratios between levels of unconjugated bilirubin after phenobarbitone test comparing to levels of bilirubin before the test of unconjugated bilirubin according to GS risk groups (GS non-risk, GS risk) (Mann-Whitney test, p = 0.040).