caa a22 4500 467984735 CHVBK 20180323112528.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00193587 doi (NATIONALLICENCE)springer-10.1007/BF00193587 Evidence that expression of SpαI/65 hereditary elliptocytosis is compounded by a genetic factor that is linked to the homologous α-spectrin allele [Elektronische Daten] [D. Guetarni, A.-F. Roux, N. Alloisio, F. Morlé, M. Ducluzeau, B. Forget, P. Colonna, J. Delaunay, J. Godet] Summary: Many cases of hereditary elliptocytosis (HE) result from mutated spectrin α-chains. It has repeatedly been observed that the amount of a mutant α-chain is different in various affected individuals, resulting in clinical pictures of variable severity. The different levels are thought to result from different percentages of the αspectrin allele in trans. Such percentages, in turn, could be under genetic control. We tested this hypothesis in a large Algerian family with SpαI/65 HE. In an informative sibship, we found three persons with a distinctly high level of expression of the SpαI/65 variant, suggesting the existence, in trans, of a low percentage α-allele. The α-spectrin gene haplotype associated with the latter was constantly − +−, based on the XbaI, PvuII and MspI polymorphic sites. In contrast, a basal level of expression of the SpαI/65 variant in the same sibship indicated, in trans, the existence of a normal percentage α-allele. The haplotype corresponding to this other α-allele was + − +. Study of another generation of the family showed, however, that the − + − haplotype could also be linked to a normal percentage α-allele. These results are consistent with the view that the expression level of αI/65 spectrin (and of other types of α-variants) is compounded by a genetic factor that is linked to the normal α-allele in trans. The low percentage allele itself remains silent in the simple heterozygous state. Springer-Verlag, 1990 Guetarni D. Centre Pierre et Marie Curie, CHU Mustapha, Alger, Algérie aut Roux A.-F CNRS UMR 106, Laboratoire de Biologie Cellulaire, Université Lyon I, F-69622, Villeurbanne Cedex, France aut Alloisio N. CNRS URA 1171, Facultéde Médecine Grange-Blanche, 08, Lyon Cedex, France aut Morlé F. CNRS UMR 106, Laboratoire de Biologie Cellulaire, Université Lyon I, F-69622, Villeurbanne Cedex, France aut Ducluzeau M. CNRS URA 1171, Facultéde Médecine Grange-Blanche, 08, Lyon Cedex, France aut Forget B. Hematology Section, Department of Internal Medicine, Yale University School of Medicine, 802 LCI, P. O. Box 3333, 06510-8056, New Haven, CT, USA aut Colonna P. Centre Pierre et Marie Curie, CHU Mustapha, Alger, Algérie aut Delaunay J. CNRS URA 1171, Facultéde Médecine Grange-Blanche, 08, Lyon Cedex, France aut Godet J. CNRS UMR 106, Laboratoire de Biologie Cellulaire, Université Lyon I, F-69622, Villeurbanne Cedex, France aut Human Genetics Springer-Verlag 85/6(1990-10-01), 627-630 0340-6717 85:6<627 1990 85 439 https://doi.org/10.1007/BF00193587 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00193587 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Guetarni D. Centre Pierre et Marie Curie, CHU Mustapha, Alger, Algérie aut NATIONALLICENCE 700 1- Roux A.-F CNRS UMR 106, Laboratoire de Biologie Cellulaire, Université Lyon I, F-69622, Villeurbanne Cedex, France aut NATIONALLICENCE 700 1- Alloisio N. CNRS URA 1171, Facultéde Médecine Grange-Blanche, 08, Lyon Cedex, France aut NATIONALLICENCE 700 1- Morlé F. CNRS UMR 106, Laboratoire de Biologie Cellulaire, Université Lyon I, F-69622, Villeurbanne Cedex, France aut NATIONALLICENCE 700 1- Ducluzeau M. CNRS URA 1171, Facultéde Médecine Grange-Blanche, 08, Lyon Cedex, France aut NATIONALLICENCE 700 1- Forget B. Hematology Section, Department of Internal Medicine, Yale University School of Medicine, 802 LCI, P. O. Box 3333, 06510-8056, New Haven, CT, USA aut NATIONALLICENCE 700 1- Colonna P. Centre Pierre et Marie Curie, CHU Mustapha, Alger, Algérie aut NATIONALLICENCE 700 1- Delaunay J. CNRS URA 1171, Facultéde Médecine Grange-Blanche, 08, Lyon Cedex, France aut NATIONALLICENCE 700 1- Godet J. CNRS UMR 106, Laboratoire de Biologie Cellulaire, Université Lyon I, F-69622, Villeurbanne Cedex, France aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/6(1990-10-01), 627-630 0340-6717 85:6<627 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer