title: [DNA polymorphism in beta-thalassemia: a study of 15 families in Tunisia].
abstract: In order to perform prenatal diagnosis of beta-thalassemia by DNA analysis in Tunisia, we investigated molecular defects and their frequencies. We have determined which haplotypes are associated with beta zero or beta +-thalassemia phenotypes. Six of the haplotypes described by Orkin were observed among 15 patients homozygous for beta zero (11) or beta +-thalassemia (4). We also investigated the molecular defects. The frameshift mutation in codon 6, characterized by Mst II seems more frequent than the beta 39 non sense mutation indicating that Tunisian patients differ from other Mediterranean patients from Algeria or Italy. Results concerning beta +-thalassemia are too preliminary to draw any conclusion. The study is currently being enlarged with other molecular probes and restriction enzymes.
mesh_terms: D004247:DNA / Q000097:blood / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D013789:Thalassemia / Q000097:blood / Q000235:genetics*; D014416:Tunisia
chemical_list: D004247:DNA
vernacular_title: Polymorphisme de l'ADN dans les beta-thalassémies: étude de 15 familles de Tunisie.