[Molecular causes of thalassemia. III. Molecular genetic variants of beta-thalassemia in Azerbaijan].
Twelve patients with homozygous beta-thalassemia from Azerbaijan are described. From biosynthetic studies, we have established that seven children had beta +-thalassemia, while five had beta 0-thalassemia. In six patients with beta +-thalassemia a close correlation has been found between alpha/beta globin chain synthesis and alpha/beta mRNA content determined by molecular hybridization. In one case of beta +-thalassemia no such correlation has been observed. It was possible to study nuclear and cytoplasmic RNA from spleen erythroid cells in one of the patients. alpha/beta globin RNA ratio was 5 in both cases, suggesting the possibility of a defect in beta-globin gene transcription. In cases of beta 0-thalassemia, heterogeneity of the relative content of beta-globin mRNA was revealed: either it is found in considerable amounts, or it is completely absent. Mapping of DNA from two beta-thalassemic patients by restriction enzymes yielded a normal pattern for the beta-globin gene region.
D000293:Adolescent; D001382:Azerbaijan; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D005006:Ethnicity; D005796:Genes; D014644:Genetic Variation; D005914:Globins / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D012313:RNA / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D012156:Reticulocytes / Q000648:ultrastructure; D013154:Spleen / Q000648:ultrastructure; D013789:Thalassemia / Q000209:etiology / Q000235:genetics*
D012333:RNA, Messenger; D012313:RNA; D005914:Globins; D004247:DNA
Izuchenie molekuliarnykh prichin talassemii. Soobshchenie III. Molekuliarno-geneticheskie varianty beta-talassemii v Azerbaĭdzhane.