http://hdl.handle.net/10608/274 Mon, 13 Apr 2026 13:40:33 GMT 2026-04-13T13:40:33Z http://www.ipubli.inserm.fr:80/bitstream/id/29203/ http://hdl.handle.net/10608/274 http://hdl.handle.net/10608/1700 Brèves Sat, 01 Jan 2000 00:00:00 GMT http://hdl.handle.net/10608/1700 2000-01-01T00:00:00Z http://hdl.handle.net/10608/1699 Les gènes modificateurs dans les maladies héréditaires. Feingold, J Many hereditary diseases are phenotypically variable. The phenotype can be more or less severe between families and within families. Three main factors can cause this phenotypic variability: allelic and non allelic heterogeneity, modifying genes, environmental differences. Modifiying genes which, while not causing the disease may be related to its severity. The modifiying genes can concern a qualitative feature of the disease, i.e. different subsets of organs can be affected, or a quantitative one, a different age of onset can be noted. Three groups of modifier genes can be considered: (1) Allelic or heteroallelic variants of the deleterious gene. (2) Genes very closely linked to the deleterious allele (chromosomal background). (3) non allelic genes. Strategies for the identification of modifiying genes are similar to those used in genetic epidemiology. Two methods are used, association studies and affected sibling pairs analysis. In both cases the candidate gene approache is privileged. Understanding the pathogenesis of a disease and/or animal models may provide clues to likely candidate genes. [References: 28] Sat, 01 Jan 2000 00:00:00 GMT http://hdl.handle.net/10608/1699 2000-01-01T00:00:00Z http://hdl.handle.net/10608/1697 Un nouveau gène de fusion dans les leucémies aiguës promyélocytaires. Philippe, C; Arnould, C; Bourdon, V; Grégoire, MJ; Berger, R; Jonveaux, P Sat, 01 Jan 2000 00:00:00 GMT http://hdl.handle.net/10608/1697 2000-01-01T00:00:00Z http://hdl.handle.net/10608/1698 PREVENT, le premier essai de thérapie génique randomisé dans le traitement des maladies artérielles. Allaire, E; Desgranges, P; Cron, J; d'Audiffret, A; Mellière, D; Becquemin, JP Sat, 01 Jan 2000 00:00:00 GMT http://hdl.handle.net/10608/1698 2000-01-01T00:00:00Z