title: Oligonucleotide screening of beta thalassemia mutations in the south east of France.
abstract: France is a non-endemic region for beta thalassemia. In this country, the sporadic cases of Cooley's disease encountered affect almost constantly subjects of Mediterranean origin. In this report, we have screened, using oligonucleotide probes, the distribution of the main beta thalassemia mutations present in the population of South-eastern France whose origins lie in the mixing of several Mediterranean ethnic groups. Among 105 beta thalassemia chromosomes, we have observed a limited number of alleles, since, by using oligonucleotide probes for six mutations, we have characterized the molecular defect in 90% of the chromosomes. The four main mutations were found in more than 85% of the chromosomes and the others in about 5%. The distribution of the beta thalassemia mutations within the various ethnic groups was determined.
authors: Laboratoire de Biochimie Médicale, U 38 de l'INSERM, Marseille, France.
authors: M
authors: M
authors: Milland
authors: J L
authors: JL
authors: Bergé-Lefranc
authors: D
authors: D
authors: Lena
authors: G
authors: G
authors: Cartouzou
mesh_terms: D000483:Alleles; D004247:DNA / Q000235:genetics; D005006:Ethnicity; D005602:France; D005787:Gene Frequency; D006801:Humans; D009154:Mutation; D009693:Nucleic Acid Hybridization; D009838:Oligodeoxyribonucleotides / Q000235:genetics; D013789:Thalassemia / Q000235:genetics*
chemical_list: D009838:Oligodeoxyribonucleotides; D004247:DNA