Triplicated α -globin Loci in Humans

We have identified 12 individuals who are heterozygous for a chromosome with three α -globin genes. We determined the presence of the third α -globin locus by restriction endonuclease digestion and hybridization with α -globin cDNA probes. The three α -globin loci resided in an elongated fragment on...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 1980-01, Vol.77 (1), p.518-521
Main Authors: Goossens, Michel, Dozy, Andree M., Embury, Stephen H., Zachariades, Zach, Hadjiminas, Minas G., Stamatoyannopoulos, George, Kan, Yuet Wai
Format: Article
Language:English
Subjects:
African Continental Ancestry Group
Chromosomes
Complementary DNA
Crossovers
Cyprus - ethnology
DNA probes
Enzymes
Erythrocyte indices
Gene Frequency
Genes
Genetic Linkage
Genetic loci
Genotypes
Globins - genetics
Hemoglobin A - biosynthesis
Humans
Recombination, Genetic
Thalassemia
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Summary:We have identified 12 individuals who are heterozygous for a chromosome with three α -globin genes. We determined the presence of the third α -globin locus by restriction endonuclease digestion and hybridization with α -globin cDNA probes. The three α -globin loci resided in an elongated fragment on digestion with EcoRI, BamHI, and Xba I, and the third locus was present in an additional 3.7-kilobase fragment on digestion with Hpa I, Sac I, and Bgl II. The locations of the restriction sites are compatible with a nonhomologous crossover mechanism producing the triple α loci. The frequency of the triple α loci was 0.0036 in American blacks and
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.77.1.518