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Trimodality in the Proportion of Hemoglobin G Philadelphia in Heterozygotes: Evidence for Heterogeneity in the Number of Human Alpha Chain Loci

Baine, Rosalie M. ; Rucknagel, Donald L. ; Dublin, Pablo A. ; Adams, Junius G.

Proceedings of the National Academy of Sciences - PNAS, 1976-10, Vol.73 (10), p.3633-3636 [Periódico revisado por pares]

United States: National Academy of Sciences of the United States of America

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  • Título:
    Trimodality in the Proportion of Hemoglobin G Philadelphia in Heterozygotes: Evidence for Heterogeneity in the Number of Human Alpha Chain Loci
  • Autor: Baine, Rosalie M. ; Rucknagel, Donald L. ; Dublin, Pablo A. ; Adams, Junius G.
  • Assuntos: Alleles ; Blood ; Erythrocytes - cytology ; Genes ; Genetic diseases ; Genetic Linkage ; Genetic loci ; Hemoglobins ; Hemoglobins, Abnormal - biosynthesis ; Heterozygote ; Heterozygotes ; Human genetics ; Medical genetics ; Models, Biological ; Proportions ; Statistical discrepancies ; Thalassemia - genetics
  • É parte de: Proceedings of the National Academy of Sciences - PNAS, 1976-10, Vol.73 (10), p.3633-3636
  • Notas: ObjectType-Article-1
    SourceType-Scholarly Journals-1
    ObjectType-Feature-2
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  • Descrição: The extent of variability in the number of human hemoglobin (Hb) alpha chain loci has not yet been conclusively determined. There is evidence that in some populations individuals may possess two α -chain loci, while in other populations only one locus is present. Electrophoresis of peripheral blood from 53 heterozygotes for Hb G Philadelphia (α68 Asn → Lys) revealed that the proportion of Hb G is trimodally distributed, with modes at approximately 20, 30, and 40% Hb G. Familial, hematologic, and statistical studies suggest that the proportion of Hb G is not random but is genetically controlled and inversely correlated with mean cell volume. Two alternative genetic models are proposed to explain these findings: one assumes α -thalassemia, while the other postulates variability in the number of α -chain loci in the American Black population. Biosynthetic studies of blood from 15 subjects revealed balanced synthesis of α and β globin chains in heterozygotes from all three classes, strongly supporting variable gene dosage rather than α -thalassemia as the mechanism underlying the observed trimodality in the proportion of Hb G. Incompatibilities between our results and current concepts of α -thalassemia are discussed in the context of differences between Black compared with Oriental and Italian forms of Hb H disease.
  • Editor: United States: National Academy of Sciences of the United States of America
  • Idioma: Inglês
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