Article
Wayward effect of polymorphism (TA)8 in the promoter region of UGT1A1 gene in a Mexican family.
The West Indian medical journal - 1 Jan 2012
Tintos-Hernández J A, Perea F J, Ibarra B, Figuera L E
Abstract excerpt
Gilbert syndrome (GS) is a hereditary relatively common benign unconjugated hyperbilirubinaemia. The promoter region of uridine diphosphate glycosyltransferase 1 (UGT1A1) gene contains a normal A (TA)6TAA element; variations in this motif (A(TA)7/8TAA) are generally associated with this disorder This is a report of the varied effects of GS in a Mexican Mestizo family with a non-common (TA)8 repeat in this...
Topics
- Adult
- Alleles
- Female
- Gilbert Disease
- Glucuronosyltransferase
- Humans
- Polymorphism, Genetic
- Promoter Regions, Genetic
- Young Adult
