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.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Beldjord C,Lapouméroulie C,Baird ML,Girot R,Adjrad L,Lenoir G,Benabadji M,Labie Ddoi
10.1007/BF00286665subject
Has Abstractpub_date
1983-01-01 00:00:00pages
204-6issue
2eissn
0340-6717issn
1432-1203journal_volume
65pub_type
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