Triplicated alpha-globin loci in humans.
Authors:
- M GoossensMGM Goossens
- A M DozyADA M Dozy
- S H EmburySES H Embury
- Z ZachariadesZZZ Zachariades
- M G HadjiminasMHM G Hadjiminas
- G StamatoyannopoulosGSG Stamatoyannopoulos
- Y W KanYKY W Kan
- 1 January 1980
- journal article
- research article
- Published by National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 77 (1) , 518-521
Abstract
Individuals (12) who are heterozygous for a chromosome with 3 .alpha.-globin genes were identified. The presence of the 3rd .alpha.-globin locus was determined by restriction endonuclease digestion and hybridization with .alpha.-globin c[complementary]DNA probes. The 3 .alpha.-globin loci resided in an elongated fragment on digestion with EcoRI, BamHI and XbaI, and the 3rd locus was present in an additional 3.7-kilobase fragment on digestion with HpaI, SacI and BglII. The locations of the restriction sites are compatible with a nonhomologous crossover mechanism producing the triple .alpha. loci. The frequency of the triple .alpha. loci was 0.0036 in American blacks and < 0.004 in Sardinians, but was higher in Greek Cypriots (0.05). Individuals with 5 .alpha.-globin (.alpha..alpha./.alpha..alpha..alpha.) apparently showed no clinical or hematologic abnormalities.Keywords
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