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UGT1A1 (TA)n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia Cover

UGT1A1 (TA)n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia

Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 1 (June 2018)
By: M Vukovic,  N Radlovic,  Z Lekovic,  K Vucicevic,  N Maric,  N Kotur,  V Gasic,  M Ugrin,  M Stojiljkovic,  L Dokmanovic,  B Zukic and  S Pavlovic  
Open Access
|Oct 2018

Figures & Tables

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.
(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.

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).
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).

Levels of unconjugated bilirubin in pediatric Gilbert syndrome patients_

ParametersUnconjugated Bilirubin in GS Risk Group (μmol/L)

The results are presented as mean ± standard deviations.

Unconjugated Bilirubin in GS Non-Risk Group (μmol/L)

The results are presented as mean ± standard deviations.

p Values

The p values were assessed using the Mann-Whitney test.

At diagnosis27.51 ± 19.1616.92 ± 7.570.079
After hypocaloric test62.02 ± 43.8541.40 ± 14.670.240
After phenobarbitone test18.01 ± 14.5714.23 ± 6.710.626

List of primers used for sequencing of the UGT1A1 coding and nearby intronic regions_

PrimerSequences (5’>3’)Temperature Annealing (°C)
UGT1A1: ex1-1FGCT ACC TTT GTG GAC TGA CAG C60
UGT1A1: ex1-1RCCA TGA GCT CCT TGT TGT GCA G
UGT1A1: ex1-2FGCC ATT CCA AAG GGA GGA TG57
UGT1A1: ex1-2RGAT GAT GCC AAA GAC AGA CTC AAA C
UGT1A1: int1ex2FCTG TAA GCA GGA AAC CCT TCC TC58
UGT1A1: int1ex2RGGA TTA ATA GTT GGG AAG TGG CAG G
UGT1A1: ex3FAAG TTG CCA GTC CTC AGA AGC60
UGT1A1: ex3RTGT TAC TCA CAT GCC CTT GCA G
UGT1A1: ex4int4FTGC AAG GGC ATG TGA GTA ACA C58
UGT1A1:ex4int4RGCA CTC CAG CCT AGG TGA C
UGT1A1: ex5FCAG GTT TCC TTT CCC AAG TTT GG58
UGT1A1: ex5RCAC TCT GGG GCT GAT TAA TTT ATG C

The distribution of UGT1A1 (TA)n promoter repeats in Gilbert syndrome patients and control groups_

GS Patients (n = 51)Controls (n = 100)
Repeatsn%Repeatsn%
6/623.926/63737.0
6/7815.876/74747.0
7/73976.477/71616.0
7/823.927/800.0
DOI: https://doi.org/10.2478/bjmg-2018-0012 | Journal eISSN: 2199-5761
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Language: English
Page range: 59 - 68
Published on: Oct 29, 2018
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Gilbert syndrome (GS),
Unconjugated hyperbilirubinemia,
Population pharmacogenetics, (TA) promoter variants
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2018 M Vukovic, N Radlovic, Z Lekovic, K Vucicevic, N Maric, N Kotur, V Gasic, M Ugrin, M Stojiljkovic, L Dokmanovic, B Zukic, S Pavlovic, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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