Am J Hum Genet. 1984 Jan;36(1):212-7.

Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene.

Kazazian HH Jr, Waber PG, Boehm CD, Lee JI, Antonarakis SE, Fairbanks VF.

Abstract

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.

PMID:: 6198908; [PubMed - indexed for MEDLINE]
PMCID:: PMC1684388

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