MOLECULAR ANALYSIS OF PATIENTS OF SARDINIAN DESCENT WITH CRIGLER-NAJJAR SYNDROME TYPE-I

This study reports the molecular characterisation of the bilirubin UDP -glucuronosyl-transferase gene (UGT1) in a group of patients of Sardin ian descent with Crigler-Najjar syndrome type I and their relatives. S equence analysis of both UGT1A exon 1 and common exons 2-5 was perform ed in all patients, leading to the detection of Delta F170 and a novel mutation (470insT), both residing in UGT1A exon 1. All but two hetero zygotes for the Delta F170 mutation showed normal serum bilirubin leve ls. These two subjects were also heterozygous for the sequence variati on A(TA)(7)TAA in the promoter region of the UGT1A gene.