Τίτλος:
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
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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 Gilbert’s syndrome. In many cases of patients with
thalassemia intermedia and sickle cell disease considerable variation in
bilirubin levels is observed. In this study we investigated the
contribution of the A(TA)(7)TAA/A(TA)(7)TAA genotype in the variable
unconjugated serum bilirubin levels in 31 Greek patients with
thalassemia intermedia and 27 Greek compound heterozygotes for beta
thalassemia and sickle cell anemia. Analysis of the A(TA)(n)TAA
configuration in the promoter region of the latter patients showed that
those who were carrying the homozygosity A(TA)(7)TAA/A(TA)(7)TAA had
higher levels of unconjugated bilirubin. These findings suggest that the
coexistence of Gilbert’s syndrome in patients with thalassemia
intermedia and sickle cell disease may be the cause of the elevated
values of unconjugated bilirubin, reducing the possibility of excessive
hemolysis in these patients. (C) 2003 Elsevier Science (USA). All rights
reserved.
Συγγραφείς:
Kalotychou, V
Antonatou, K
Tzanetea, R
Terpos, E and
Loukopoulos, D
Rombos, Y
Περιοδικό:
BLOOD CELLS MOLECULES AND DISEASES
Εκδότης:
ACADEMIC PRESS INC ELSEVIER SCIENCE
Λέξεις-κλειδιά:
thalassemia intermedia; sickle cell disease; Gilbert’s syndrome;
A(TA)(n)TAA configurations
DOI:
10.1016/S1079-9796(03)00118-9
