Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP).
Prenat Diagn
; 22(10): 914-6, 2002 Oct.
Article
in En
| MEDLINE
| ID: mdl-12378576
ABSTRACT
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 performing DNA-based diagnosis. Here we report DNA-based prenatal diagnosis of CN-I in two Tunisian families in whom CN-I patients were diagnosed. As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis. In both cases, SSCP analysis of fetal DNA showed that the fetus was heterozygous for the Q357R mutation. In one family, the pregnancy was carried to term and a healthy baby was born, whereas, in the other family, the pregnancy is still continuing. Thus the prenatal diagnosis of CN-I is possible, provided disease-causing mutations have been identified. SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Prenatal Diagnosis
/
Glucuronosyltransferase
/
Polymorphism, Single-Stranded Conformational
/
Crigler-Najjar Syndrome
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Country/Region as subject:
Africa
Language:
En
Journal:
Prenat Diagn
Year:
2002
Document type:
Article
Affiliation country:
France