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Isolation and use of chromosome 1 probes for linkage studies on Charcot‐Marie‐Tooth disease
Author(s) -
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.,
McLEOD J. G.,
NICHOLSON G. A.
Publication year - 1990
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1990.tb00358.x
Subject(s) - spectrin , genetics , linkage (software) , biology , genetic linkage , chromosome , hum , clone (java method) , gene , cell , art , cytoskeleton , performance art , art history
SUMMARY 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.