title: Beta-thalassaemia in indigenous Belgian families: identification of a novel mutation.
abstract: The molecular basis of beta-thalassemia was investigated at the DNA level in 28 Belgians from 14 unrelated families. All the patients were heterozygous for beta-thalassaemia. Seven different mutations were identified using a combination of dot-blot hybridization with allele-specific oligonucleotide probes and direct automated fluorescence-based DNA sequencing. Among these mutations, four are commonly found in the Mediterraneans - codon 8 (-AA), IVS-I-1 (G --> A), IVS-I-6 (T --> C) and codon 39 (C --> T)-and two have occasionally been reported-initiation codon (T --> C) and codon 35 (C --> A). The last mutation, a -CC deletion at codons 38/39, appears to be a novel mutation and can routinely be investigated by AvaII restriction on amplified DNA. We report our findings, discuss the diversity of the mutations found in Belgium and show the usefulness of direct DNA sequencing in a population in which the molecular defects of beta-thalassaemia have yet to be characterized and in which screening is hampered by the wide range of potential mutations.
authors.affiliation: Laboratory of Clinical Molecular Biology, Université Catholique de Louvain, Brussels, Belgium.
authors.forename: M
authors.initials: M
authors.lastname: Heusterspreute
authors.forename: I
authors.initials: I
authors.lastname: Derclaye
authors.forename: J L
authors.initials: JL
authors.lastname: Gala
authors.forename: C
authors.initials: C
authors.lastname: Van Geet
authors.forename: A
authors.initials: A
authors.lastname: Ferrant
authors.forename: Y
authors.initials: Y
authors.lastname: Malchaire
authors.forename: J
authors.initials: J
authors.lastname: Thonnard
authors.forename: J L
authors.initials: JL
authors.lastname: Vaerman
authors.forename: M
authors.initials: M
authors.lastname: Philippe
mesh_terms: D001530:Belgium; D003062:Codon / Q000235:genetics; D017931:DNA Primers; D015342:DNA Probes; D005260:Female; D005820:Genetic Testing; D005914:Globins / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D017384:Sequence Deletion; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D017931:DNA Primers; D015342:DNA Probes; D005914:Globins