Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene.
We have determined haplotypes for the known restriction site polymorphisms in the beta-globin gene cluster in two families of European ancestry containing individuals who are heterozygous for hemoglobin E. In both families, the beta E mutation is associated with a haplotype not previously found among the haplotypes of beta E chromosomes in Southeast Asia. Moreover, in one family, the mutation is present in a beta-gene framework not found in beta E chromosomes of Southeast Asia. These data provide further evidence of multiple independent origins of the beta E mutation in human populations.
D001210:Asia, Southeastern; D001609:Beta-Globulins / Q000235:genetics*; D002874:Chromosome Mapping; D005060:Europe; D006446:Hemoglobin E / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic
D001609:Beta-Globulins; D006455:Hemoglobins, Abnormal; D006446:Hemoglobin E