Evidence supporting a single origin of the β(C)-globin gene in blacks

C. D. Boehm, C. E. Dowling, S. E. Antonarakis, G. R. Honig, H. H. Kazazian

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33 Scopus citations


In order to characterize the origin(s) of the β(C)-globin gene in blacks, 25 chromosomes bearing this gene were characterized at eight polymorphic restriction sites within the β-globin gene cluster. Twenty-two of the 25 chromosomes were identical at all sites and possessed a haplotype seen only infrequently among β(A)-bearing chromosomes in black Americans. Two different haplotypes were observed among the three exceptional chromosomes. These haplotypes were identical to the most common β(C) allele in the 3' end of the β-globin gene cluster, but differed in the 5' region. Partial haplotype analysis on an additonal 14 β(C) alleles demonstrated complete association with the typical β(C)-associated polymorphisms in the 3' region of the cluster. These data can be most easily explained by a single origin of the mutation followed by spread of the mutation to other haplotypes through meiotic recombination 5' to the β-globin gene.

Original languageEnglish (US)
Pages (from-to)771-777
Number of pages7
JournalAmerican journal of human genetics
Issue number4
StatePublished - Dec 1 1985

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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