A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite

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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    Abstract

    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 c M 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.

    Original languageEnglish
    Pages (from-to)531-538
    Number of pages8
    JournalHuman Genetics
    Volume89
    Issue number5
    DOIs
    Publication statusPublished - 1 Jul 1992

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    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)

    Cite this

    Fujita, R., Sirugo, G., Duclos, F., Abderrahim, H., Le Paslier, D., Cohen, D., Brownstein, B. H., Schlessinger, D., Mandel, J. L., & Koenig, M. (1992). A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite. Human Genetics, 89(5), 531-538. https://doi.org/10.1007/BF00219179