Article
Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP).
Prenatal diagnosis - 1 Oct 2002
Francoual Jeanne, Trioche Pascale, Mokrani Chahnez, Seboui Hassen, Khrouf Naïma, Chalas Jacqueline, Clement Marina, Capel Liliane, Tachdjian Gérard, Labrune Philippe
Abstract excerpt
Crigler-Najjar syndrome type I (CN-I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin-UDP-glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as UGT is not active in these tissues. The cloning of the UGT1 gene and the identification of disease-causing mutations have led to the possibility of...
Topics
- Chorionic Villi Sampling
- Crigler-Najjar Syndrome
- Female
- Glucuronosyltransferase
- Heterozygote
- Homozygote
- Humans
- Monosaccharide Transport Proteins
- Mutation
- Polymorphism, Single-Stranded Conformational
- Pregnancy
- Prenatal Diagnosis
- Tunisia