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Ann Hum Genet. 1990 Jan;54(1):31-7. doi: 10.1111/j.1469-1809.1990.tb00358.x.

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

Annals of human genetics

L R Griffiths, M B Zwi, N Mesterovic, D A Ross, P G Board, D F Callen, T Mohandas, R Buckland, J M Fletcher, A J Driesel

Affiliations

  1. Department of Medicine, University of Sydney, New South Wales, Australia.

PMID: 2321912 DOI: 10.1111/j.1469-1809.1990.tb00358.x

Abstract

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.

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