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. 1985 Jul;37(4):771–777.

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

C D Boehm 1, C E Dowling 1, S E Antonarakis 1, G R Honig 1, H H Kazazian Jr 1
PMCID: PMC1684615  PMID: 9556665

Abstract

In order to characterize the origin(s) of the beta C-globin gene in blacks, 25 chromosomes bearing this gene were characterized at eight polymorphic restriction sites within the beta-globin gene cluster. Twenty-two of the 25 chromosomes were identical at all sites and possessed a haplotype seen only infrequently among beta A-bearing chromosomes in black Americans. Two different haplotypes were observed among the three exceptional chromosomes. These haplotypes were identical to the most common beta C allele in the 3' end of the beta-globin gene cluster, but differed in the 5' region. Partial haplotype analysis on an additional 14 beta C alleles demonstrated complete association with the typical beta 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 beta-globin gene.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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