Oligonucleotide Screening of β Thalassemia Mutations in the South East of France
- 1 January 1987
- journal article
- research article
- Published by Taylor & Francis in Hemoglobin
- Vol. 11 (4), 317-327
- https://doi.org/10.3109/03630268709042851
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.This publication has 19 references indexed in Scilit:
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