| Literature DB >> 6317540 |
C Beldjord, C Lapouméroulie, M L Baird, R Girot, L Adjrad, G Lenoir, M Benabadji, D Labie.
Abstract
beta-Thalassemia, a heterogeneous group of human anemias affecting the expression of beta-globin, is caused by a number of molecular defects. Restriction endonuclease mapping of ethnic populations has revealed many polymorphisms within and around the beta-like globin genes, combinations of which are assigned as haplotypes. Several haplotypes appear to be strongly linked with the molecular defects causing thalassemia in Greek and Italian patients (Orkin et al. 1982). We describe here haplotypes from 40 Algerian beta-thalassemic patients and eight normals determined by restriction endonuclease mapping at seven polymorphic sites. Four haplotypes previously unreported were observed in these thalassemic patients; this argues the existence in this population of undescribed beta-thalassemia alleles. The knowledge of the haplotypes in thalassemic families could be used for prenatal diagnosis of homozygote forms.Entities:
Mesh:
Substances:
Year: 1983 PMID: 6317540 DOI: 10.1007/bf00286665
Source DB: PubMed Journal: Hum Genet ISSN: 0340-6717 Impact factor: 4.132