Beta-thalassaemia in indigenous Belgian families: identification of a novel mutation |
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Authors: | Michel Heusterspreute Isabelle Derclaye Jean-Luc Gala Chris Van Geet Augustin Ferrant Yolande Malchaire Joëlle Thonnard Jean-Luc Vaerman M Philippe |
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Institution: | (1) Laboratory of Clinical Molecular Biology, Université Catholique de Louvain, Clos Chapelle aux Champs, 30/3046, B-1200 Brussels, Belgium Tel.: +32-2-7643926; Fax: +32-2-7643959, BE;(2) Department of Pediatrics, UZ Gasthuisberg, Katholieke Universiteit of Leuven, Herestraat 49, B-3000 Leuven, Belgium, BE;(3) Department of Hematology, Université Catholique de Louvain, Av. Hippocrate 10, B-1200 Brussels, Belgium, BE |
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Abstract: | The molecular basis of β-thalassemia was investigated at the DNA level in 28 Belgians from 14 unrelated families. All the
patients were heterozygous for β-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 β-thalassaemia have yet to be characterized
and in which screening is hampered by the wide range of potential mutations.
Received: 8 December 1995 / Revised: 7 February 1996 |
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