title: Heterogeneity of the alpha-globin gene defects in German alpha-thalassemia affected families.
abstract: Analysis of alpha-thalassemia syndromes in several German families revealed DNA deletion as well as non-deletion forms as the molecular basis for the defects. Thus, the alpha-thalassemia haplotype was identified as the (-alpha)3.7 rightward deletion form, and the region of the putative recombination process generating such a deletion was further characterized. In addition three different alpha(0)-thalassemia haplotypes, (--)MED, (--) > 26, and (alpha alpha)T, could be detected using alpha- and zeta-globin gene-specific probes.
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D005260:Female; D005796:Genes; D014644:Genetic Variation; D005838:Genotype; D005860:Germany, West; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins; D004262:DNA Restriction Enzymes