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  • Title: Genetic polymorphisms of gene conversion within the duplicated human alpha-globin loci.
    Author: Nakashima H, Fujiyama A, Kagiyama S, Imamura T.
    Journal: Hum Genet; 1990 May; 84(6):568-70. PubMed ID: 1970975.
    Abstract:
    Of the 645 Japanese subjects studied, we have identified 10 individuals heterozygous for a chromosome with the triplicated alpha-globin loci. The frequency of the triple alpha-loci was 0.008 in this population, while that of the single alpha-locus, i.e., alpha-thalassemia 2 gene, might be lower than 0.0008. Analysis of haplotypes using particular RsaI site polymorphism in the alpha-globin gene complex strongly suggests that the triple alpha loci may have had multiple origins in this population.
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