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

doi:10.1111/j.1469-1809.1990.tb00358.x

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 journal › Article › peer-review

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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 language	English
Pages (from-to)	31-37
Number of pages	7
Journal	Annals of Human Genetics
Volume	54
Issue number	1
DOIs	https://doi.org/10.1111/j.1469-1809.1990.tb00358.x
Publication status	Published - 1990
Externally published	Yes

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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. (1990). Isolation and use of chromosome 1 probes for linkage studies on Charcot-Marie-Tooth disease. Annals of Human Genetics, 54(1), 31-37. https://doi.org/10.1111/j.1469-1809.1990.tb00358.x

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

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.",

author = "GRIFFITHS, {L. R.} and ZWI, {M. B.} and N. MESTEROVIC and ROSS, {D. A.} and BOARD, {P. G.} and CALLEN, {D. F.} and T. MOHANDAS and R. BUCKLAND and FLETCHER, {J. M.} and DRIESEL, {A. J.} and McLEOD, {J. G.} and NICHOLSON, {G. A.}",

year = "1990",

doi = "10.1111/j.1469-1809.1990.tb00358.x",

language = "English",

volume = "54",

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AU - GRIFFITHS, L. R.

AU - ZWI, M. B.

AU - MESTEROVIC, N.

AU - ROSS, D. A.

AU - BOARD, P. G.

AU - CALLEN, D. F.

AU - MOHANDAS, T.

AU - BUCKLAND, R.

AU - FLETCHER, J. M.

AU - DRIESEL, A. J.

AU - McLEOD, J. G.

AU - NICHOLSON, G. A.

PY - 1990

Y1 - 1990

N2 - 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.

AB - 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.

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JO - Annals of Human Genetics

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ER -

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

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