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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Isolation and use of chromosome 1 probes for linkage studies on Charcot-Marie-Tooth disease.

Nine probes were isolated from a human chromosome 1 enriched library and mapped to regions of chromosome 1 using somatic cell hybrid lines. One clone, LR67, which mapped to 1q12----q23 detected a BglI RFLP. This probe, as well as 4 other known chromosome 1 markers, alpha-spectrin, Factor XIIIB, DR10 and DR78, were used for linkage studies in 15 Charcot-Marie-Tooth disease (CMT1) families. Close linkage of CMT1 to any of the 5 markers was not indicated. Total lod scores excluded linkage of CMT1 to LR67 and to DR10 at 5 cM or less, to DR78 at 10 cM or less, alpha-spectrin at 15 cM or less and Factor XIIIB at 20 cM or less. Possible linkage, however, was shown between LR67 and CMT1 at a distance of 30 cM. Also linkage at a distance of 5 cM was detected between this probe and alpha-spectrin.[1]


  1. Isolation and use of chromosome 1 probes for linkage studies on Charcot-Marie-Tooth disease. Griffiths, L.R., Zwi, M.B., Mesterovic, N., Ross, D.A., Board, P.G., Callen, D.F., Mohandas, T., Buckland, R., Fletcher, J.M., Driesel, A.J. Ann. Hum. Genet. (1990) [Pubmed]
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