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Polymorphisms of human γ-globin genes in Mediterranean populations [26]

Nature, ISSN: 0028-0836, Vol: 282, Issue: 5736, Page: 316-318
1979
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During normal human fetal development, two γ-globin genes are expressed to give γ-globin chains, one of which contains an alanine residue and the other a glycine residue at amino acid position 136 ( γ and γ, respectively). Recently, a human γglobin chain mutant has been described in HbF in which threonine replaces isoleucine at position 75 (ref. 2). This haemoglobin is frequently found in varying levels in Italian patients with β-thalassaemia (29 out of 32 patients), and in normal fetal cord blood in some populations (9 out of 19). In England the proportion of infants expressing this variant (usually at low levels but occasionally up to 40% of the total fetal globin) is approximately one in five. The number of γ-globin gene loci has long been controversial. The two chains γ and γ are non-allelic and therefore the minimum possible number of genes is two. The change in γ/ γ chain ratio from 0.3 to 1.5 as fetal development proceeds led Huisman and Schroeder to propose four γ-globin genes per haploid genome. Direct molecular hybridisation of γ-globin DNA sequences gave data supporting the two-gene hypothesis. Because of its widespread occurrence, it has been suggested that the γ-chain in HbF is coded by a third structural gene, γ, non-allelic with γ and γ (ref. 3). We show here by direct restriction analysis of the γ-globin genes that people expressing HbF have two γ-globin genes per haploid set, and therefore that the γ-chain in HbF is coded for by an allele of either the γ or γ-globin gene. © 1979 Nature Publishing Group.

Bibliographic Details

Peter F. R. Little; Robert Williamson; Gillian Annison; Richard A. Flavell; Ernie De Boer; L. F. Bernini; Sergio Ottolenghi; Guiseppe Saglio; Umberto Mazza

Springer Science and Business Media LLC

Multidisciplinary

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