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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Biochimiearrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Biochimie
Article . 1972 . Peer-reviewed
License: Elsevier TDM
Data sources: Crossref
Biochimie
Article . 1973
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Duplication of haemoglobin genes

Authors: Robert D. Koler; Richard T. Jones; Susan R. Hollán;

Duplication of haemoglobin genes

Abstract

Resume L'etude de l'hemoglobine humaine a ete particulierement fructueuse dans la definition des genes de structure. La reconnaissance du fait que plus d'un locus peut intervenir dans le controle genetique d'une chaine polypeptidique a conduit a reexaminer certaines idees generalement acceptees. Il n'y a pas actuellement de donnees suggerant la presence de genes non alleliques pour les chaines β et δ humaines. Des arguments precis sont en faveur de l'existence de multiples genes de structure non alleliques pour la chaine γ humaines. De nombreux mammiferes examines ont au moins deux sortes de chaines differant par un ou plusieurs residus. La duplication du gene de la chaine α humaine a ete admise comme explication la plus simple de l'heterogeneite de l'α thalassemie et pour les proportions differentes des mutants des chaines α et β. L'etude d'une famille hongroise fournit les premiers resultats permettant de conclure que des genes non alleliques codent pour la chaine α humaine. Trois individus de cette famille ont trois hemoglobines majeures Hb J-Buda, Hb G Pest et Hb A. L'hybridation des subunites des fractions purifiees, de meme que la separation des chaines polypeptidiques ne revelent que des chaines β normales et au contraire une chaine α rapide de l'Hb J-Buda, α lente de l'Hb G-Pest et αA normale. L'Hb J-Buda/α 61 Lys → Asn est une mutation homologue a l'Hb I Toulouse β 66 Lys → Glu; elle presente une instabilite difficilement detectable. Les resultats sont incomplets pour la chaine α lente de l'Hb G-Pest, mais les resultats sont en accord avec un changement amidique dans le 9e peptide trypsique. L'analyse genetique de la famille indique la presence de loci non alleliques pour la structure de la chaine α humaine. La variation du niveau d'expression de loci non alleliques multiples de l'hemoglobine, les difficultes de detection de chaines de sequence identique, des resultats equivoques en ce qui concerne l'existence universelle de deux loci pour la chaine α, et les eventuels avantages d'une duplication de chaine seront discutes.

Related Organizations
Keywords

Chromatography, Hemoglobins, Genes, Electrophoresis, Starch Gel, Genes, Regulator, Mutation, Humans, Amino Acid Sequence, Models, Biological, Pedigree

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
21
Average
Top 10%
Top 10%
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