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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping
Nature Genetics, Volume 5, No. 2, Year 1993
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Description
Friedreich ataxia and ataxia with selective vitamin E deficiency (AVED) share very similar clinical phenotypes. We have mapped the AVED locus to proximal 8q with only three large consanguinous Tunisian families, representing to our knowledge the first use of homozygosity mapping for primary linkage analysis. Subsequently, three additional families showed linkage with the same markers. A maximum lod score of 17.9 was obtained at = 0 for the haplotype D8S260 D8S510, consisting of the two closest markers. With only 6 families, the AVED locus is therefore mapped precisely as illustrated by the lod 1 confidence interval of 2.4 cM on either side of D8S260 D8S510. Isolation of a yeast artificial chromosome contig >800 kilobases (kb) showed that D8S260 and D8S510 are less than 400 kb apart. © 1993 Nature Publishing Group.
Authors & Co-Authors
Hamida, Christiane Ben
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Doerflinger, Nathalie H.
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Belal, Samir
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Linder, Catherine Y.
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
United States, Bethesda
National Institute of Diabetes and Digestive and Kidney Diseases Niddk
Reutenauer, Laurence
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Dib, Colette
France, Evry
Généthon
Gyapay, Gábor
France, Evry
Généthon
Vignal, Alain
France, Evry
Généthon
Le Paslier, Denis L.
France, Paris
Fondation Jean Dausset - Ceph
Cohen, Daniel M.
France, Paris
Fondation Jean Dausset - Ceph
Pandolfo, Massimo
Italy, Milan
Foundation Irccs Neurological Institute C. Besta
Mokini, V.
Albania, Tirana
University of Tirana
Novelli, Giuseppe
Italy, Rome
Università Cattolica Del Sacro Cuore, Campus Di Roma
Hentati, F. F.
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Hamida, Mongi Ben
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Mandel, Jean Louis
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Kanig, M.
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Statistics
Citations: 211
Authors: 17
Affiliations: 8
Identifiers
Doi:
10.1038/ng1093-195
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics