Regional localisation of the Friedreich ataxia locus to human chromosome 9q13→q21.1

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Abstract
We have previously assigned the Friedreich ataxia locus (FRDA) to chromosome 9; the current maximal lod score between FRDA and MCT112 (D9S15) is > 50 at a recombination fraction of Θ = 0. The physical assignment of the locus defined by MCT12, and hence FRDA, has not been determined, although linkage analysis of MCT11 with other chromosome 9 markers inferred a location close to the centromere. We have used in situ hybridisation with MCT112, a corresponding cosmid MJ1, and DR47 (D9S5), coupled with mapping studies on hybrid cell panels, to define more precisely the location of the disease locus. The in situ location of all three probes is 9q1→q21.1, distal to the variable heterochromatin region. Physical assignment of FRDA will allow us to identify hybrid cell lines containing the mutated gene.