Article
Analysis of the A(TA)(n)TAA configuration in the promoter region of the UGT1 A1 gene in Greek patients with thalassemia intermedia and sickle cell disease.
Blood cells, molecules & diseases - 1 Jan 2000
Kalotychou Vassiliki, Antonatou Katerina, Tzanetea Revekka, Terpos Evaggelos, Loukopoulos Dimitris, Rombos Yannis
Abstract excerpt
Gilbert's syndrome is characterized by mild unconjugated hyperbilirubinemia. The molecular basis of this syndrome usually concerns an additional dinucleotide insertion (TA) in the A(TA)(n)TAA configuration residing in the promoter region of the UGT1 A1 gene. This configuration may vary in length; the "n" represents the different number of TA repeats. The homozygosity A(TA)(7)TAA/A(TA)(7)TAA is involved in...
Topics
- Amino Acid Sequence
- Anemia, Sickle Cell
- Bilirubin
- Genotype
- Gilbert Disease
- Glucuronosyltransferase
- Greece
- Humans
- Hyperbilirubinemia
- Poly dA-dT