Alpha-globin gene deletion causes alpha-thalassemia syndromes in two German families.
Restriction endonuclease mapping of chromosomal DNA has been used to determine whether the alpha-globin gene deletion or non-deletion form of alpha-thalassemia is the underlying molecular defect in individuals of two unrelated German families with alpha-thalassemia syndromes. The obtained DNA pattern in all cases indicated loss of alpha-globin genes resulting in -alpha/alpha alpha, --/alpha alpha, and --/-alpha genotypes in alpha-thalassemia-2, alpha-thalassemia-1, and Hb H individuals respectively. The chromosomes showing loss of one alpha-globin gene in alpha-thalassemia-2 and Hb H disease were characterized by the so-called rightward deletion form exhibiting loss of a 3.7 kb DNA fragment in the alpha-gene cluster.
D002872:Chromosome Deletion; D004262:DNA Restriction Enzymes; D005260:Female; D005914:Globins / Q000235:genetics*; D006447:Hemoglobin H / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D006447:Hemoglobin H; D004262:DNA Restriction Enzymes