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

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, J. G. McLEOD, G. A. NICHOLSON

*Corresponding author for this work

Research output: Contribution to journalArticle

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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, α‐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, 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.

Original languageEnglish
Pages (from-to)31-37
Number of pages7
JournalAnnals of Human Genetics
Volume54
Issue number1
DOIs
Publication statusPublished - 1990
Externally publishedYes

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