Abstract | BACKGROUND: METHODS: The promoter region (TA)n motifs of the bilirubin UGT1A1 gene were analyzed in 104 beta thalassemia individuals. The control group consisted of 50 healthy individuals. RESULTS: The analysis of the UGT1A1 promoter showed three (TA) motifs: (TA)5, (TA)6, and (TA)7. The frequency of genotype (TA)7/(TA)7 did not differ significantly between the groups studied. A significant difference was observed in mean serum bilirubin levels between individuals showing (TA)7/(TA)7 and (TA)6/(TA)6 genotypes and also between (TA)7/(TA)7 and (TA)6/(TA)7 genotypes among all groups studied. According to the beta genotype, no differences were observed between mean serum bilirubin levels in the three groups (β(+)/β(+), β(0)/β(+), and β(0)/β(0)). CONCLUSION: These results indicate that the (TA)7/(TA)7 configuration is one of the factors responsible for hyperbilirubinemia and, therefore, seems to interfere with the clinical expression of homozygous beta thalassemia. This emphasizes the role played by co-inherited modifying genes on clinical heterogeneity of monogenic disorders.
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Authors | Pooja S Dabke, Roshan B Colah, Kanjaksha K Ghosh, Anita H Nadkarni |
Journal | Hematology (Amsterdam, Netherlands)
(Hematology)
Vol. 19
Issue 7
Pg. 388-92
(Oct 2014)
ISSN: 1607-8454 [Electronic] England |
PMID | 24620945
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- UGT1A1 enzyme
- Glucuronosyltransferase
- Bilirubin
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Topics |
- Bilirubin
(blood, metabolism)
- Dinucleotide Repeats
(genetics)
- Gene Frequency
- Genotype
- Gilbert Disease
(blood, complications, genetics)
- Glucuronosyltransferase
(genetics, metabolism)
- Humans
- Hyperbilirubinemia
(blood, complications, genetics)
- India
- Mutation
- Nucleotide Motifs
(genetics)
- Promoter Regions, Genetic
(genetics)
- beta-Thalassemia
(blood, complications, genetics)
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