A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite |
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| Authors: | Ricardo Fujita Giorgio Sirugo Franck Duclos Hadi Abderrahim Denis Le Paslier Daniel Cohen Bernard H Brownstein David Schlessinger Jean-Louis Mandel Michel Koenig |
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| Institution: | (1) LGME-CNRS, U.184-INSERM, Institut de Chimie Biologique, Faculté de Médecine, Université Louis Pasteur, 11, Rue Humann, F-67085 Strasbourg Cedex, France;(2) Centre d'Etudes du Polymorphisme Humain, 27, Rue Juliette Dodu, F-75010 Paris, France;(3) Department of Genetics and Center for Genetics in Medicine, Washington University School of Medicine, Box 8031, 63110 St. Louis, MO, USA;(4) Present address: Department of Ophthalmology, University of Michigan, W. K. Kellogg Eye Center, 1000 Wall Street, 48105 Ann Arbor, MI, USA |
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| Abstract: | Summary Friedreich ataxia (FA) is a severe autosomal recessive neurodegenerative disease. The defective gene has been previously assigned to chromosome 9q13-q21 by demonstration of tight linkage to the two independent loci D9S15 and D9S5. Linkage data indicate that FRDA is at less than 1 cM from both markers. Previous physical mapping has shown that probes defining D9S15 (MCT112) and D9S5 (26P) are less than 260kb apart and are surrounded by at least six CpG clusters within 450 kb, which might indicate the presence of  candidate genes for FA. We isolated and characterized a 530 kb YAC (yeast artificial chromosome) contig that contains five of the CpG clusters. The YACs were used to search for new polymorphic markers needed to map FRDA precisely with respect to the cloned segment. In particular, we found a (CA)n microsatellite polymorphism, GS4, that detects 13 alleles with a PIC value of 0.83 and allows the definition of haplotypes extending over 310kb when used in combination with polymorphic markers at D9S5 and D9S15. |
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