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Genetic polymorphisms of gene conversion within the duplicated human alpha-globin loci
H Nakashima1, A Fujiyama, S Kagiyama
1Department of Human Genetics, National Institute of Genetics, Mishima, Japan.
Human Genetics
|May 1, 1990
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.