Article
Prenatal diagnosis of bilirubin-UDP-glucuronosyltransferase deficiency in rats by genomic DNA analysis.
Hepatology (Baltimore, Md.) - 1 Sept 1992
Huang T J, Chowdhury J R, Lahiri P, Yerneni P C, Bommineni V R, Arias I M, Chowdhury N R
Abstract excerpt
Hepatic bilirubin excretion requires UDP-glucuronosyltransferase-mediated glucuronidation. Patients with type I Crigler-Najjar syndrome and mutant rats (Gunn strain) inherit deficiency of UDP-glucuronyltransferase activity toward bilirubin as an autosomal recessive trait and, as a result, exhibit marked nonhemolytic unconjugated hyperbilirubinemia throughout postnatal life. Heterozygous carriers of the trait have...
Topics
- Animals
- Base Sequence
- DNA
- Genetic Carrier Screening
- Genotype
- Glucosyltransferases
- Heterozygote
- Homozygote
- Molecular Sequence Data
- Phenotype
- Polymerase Chain Reaction