Isolation and use of chromosome 1 probes for linkage studies on Charcot-Marie-Tooth disease
Griffiths, Lyn 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., McLeod, J. G., & Nicholson, G. A. (1990) Isolation and use of chromosome 1 probes for linkage studies on Charcot-Marie-Tooth disease. Annals of Human Genetics, 54(1), pp. 31-37.
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 1q12→q23 detected a BglI RFLP. This probe, as well as 4 other known chromosome 1 markers, α-spectrin, Factor XIIIB, DR10 and DR78, were used for linkage studies in 15 Charcot-Marie-Tooth disease (CMT1) families. Close linking 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 and 10 cM or less, α-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 α-spectrin.
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|Item Type:||Journal Article|
|Keywords:||article, cell culture, chromosome 1, clinical article, dna probe, gene location, genetic engineering, genetic linkage, hereditary motor sensory neuropathy, hereditary motor sensory neuropathy type 1, heredity, human, human cell, marker gene, priority journal, Charcot-Marie-Tooth Disease, Chromosome Mapping, Chromosomes, Human, Pair 1, DNA Probes, Female, Human, Linkage (Genetics), Lod Score, Male, Muscular Atrophy, Spinal, Pedigree, Support, Non-U.S. Gov't|
|Divisions:||Current > Institutes > Institute of Health and Biomedical Innovation|
|Copyright Owner:||Copyright 1990 Wiley-Blackwell Publishing Ltd.|
|Deposited On:||27 Sep 2013 07:46|
|Last Modified:||27 Sep 2013 07:46|
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