Interaction of chromosomes bearing 1, 2 or 3 alpha-globin genes in an American black family with alpha-thalassemia.
Utilizing restriction endonuclease mapping and molecular hybridization we have determined the number and arrangement of the alpha-globin genes in members of an American Black family in which alpha-thalassemia is present. In addition to chromosomes bearing 0, 1 or 2 alpha-genes, an unusual chromosome bearing 3 alpha-globin genes was detected in 3 family members. In 2 family members the 3 alpha-globin gene chromosome was present opposite a chromosome containing a single alpha-globin gene; these cases represent the first reports of the alpha alpha alpha/-alpha genotype. The presence of the stigmata of "mild" alpha-thalassemia trait in one of these subjects indicates that the 3 alpha-gene chromosome probably does not direct the synthesis of significantly more alpha-globin chains than does the 2 alpha-gene chromosome.
D002902:Chromosomes, Human, 16-18; D005914:Globins / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D005914:Globins