Molecular Biomarkers & Diagnosis

Slim Ben Ammar

Publications

• Research Article
  Clinical Variability among Patients with Gilbert Syndrome
  Author(s): Leila Chaouch, Imen Darragi, Emna Barkaoui, Slim Ben Ammar, Dorra Chaouachi, Imen Boudrigua and Salem AbbesLeila Chaouch, Imen Darragi, Emna Barkaoui, Slim Ben Ammar, Dorra Chaouachi, Imen Boudrigua and Salem Abbes
  
  Introduction: Gilbert syndrome (GS) is due to a defect in uridine diphosphate glucuronosyl transferase (UGT1A1) gene and belongs to the group of the most common human metabolic disorders and is characterized by an elevated level of bilirubin in blood serum. Genotyping functional polymorphisms in UGT1A1 gene is an important step in the determination of the etiology of free hyperbilirubinemia of unknown origin. Herein, we aimed to explain the genetic profile and the clinical variability of this disease in Tunisian patients. Material and methods: We explored a total of 30 subjects including 7 unrelated isolated cases and 23 subjects distributed to 7 families. The exploration of these subjects included the genotyping of two Functional polymorphisms of UGT1A1 gene associated with GS namely: A(TA)nTAA and G71R, the bilirubin level, the hematologic.. Read More»
  DOI: 10.4172/2155-9929.1000201

  Abstract PDF