Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2

Jeffery M. Vance; David Barker; Larry H. Yamaoka; Jeffrey M. Stajich; Lorraine Loprest; Wu Yen Hung; Kenneth Fischbeck; Allen D. Roses; Margaret A. Pericak-Vance

doi:10.1016/0888-7543(91)90355-I

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2

Jeffery M. Vance, David Barker, Larry H. Yamaoka, Jeffrey M. Stajich, Lorraine Loprest, Wu Yen Hung, Kenneth Fischbeck, Allen D. Roses, Margaret A. Pericak-Vance

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Abstract

Charcot-Marie-Tooth (CMT) disease type 1a has been previously localized to chromosome 17 using the markers D17S58 and D17S71. In that report we were unable to provide unequivocal localization of the CMT1A gene on either the proximal p or the q arm. Therefore, data from one additional CMT1A family and typing of other probes spanning the pericentromeric region of chromosome 17 (D17S73, D17S58, D17S122, D17S125, D17S124) were analyzed. Multipoint analysis demonstrates convincing evidence (log likelihood difference > 5) that the CMT1A gene lies within 17p11.2 and most likely between the flanking markers D17S122 and D17S124.

Original language	English (US)
Pages (from-to)	623-628
Number of pages	6
Journal	Genomics
Volume	9
Issue number	4
DOIs	https://doi.org/10.1016/0888-7543(91)90355-I
State	Published - Apr 1991
Externally published	Yes

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Genetics

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Vance, J. M., Barker, D., Yamaoka, L. H., Stajich, J. M., Loprest, L., Hung, W. Y., Fischbeck, K., Roses, A. D., & Pericak-Vance, M. A. (1991). Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2. Genomics, 9(4), 623-628. https://doi.org/10.1016/0888-7543(91)90355-I

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title = "Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2",

abstract = "Charcot-Marie-Tooth (CMT) disease type 1a has been previously localized to chromosome 17 using the markers D17S58 and D17S71. In that report we were unable to provide unequivocal localization of the CMT1A gene on either the proximal p or the q arm. Therefore, data from one additional CMT1A family and typing of other probes spanning the pericentromeric region of chromosome 17 (D17S73, D17S58, D17S122, D17S125, D17S124) were analyzed. Multipoint analysis demonstrates convincing evidence (log likelihood difference > 5) that the CMT1A gene lies within 17p11.2 and most likely between the flanking markers D17S122 and D17S124.",

author = "Vance, {Jeffery M.} and David Barker and Yamaoka, {Larry H.} and Stajich, {Jeffrey M.} and Lorraine Loprest and Hung, {Wu Yen} and Kenneth Fischbeck and Roses, {Allen D.} and Pericak-Vance, {Margaret A.}",

year = "1991",

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T1 - Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2

AU - Vance, Jeffery M.

AU - Barker, David

AU - Yamaoka, Larry H.

AU - Stajich, Jeffrey M.

AU - Loprest, Lorraine

AU - Hung, Wu Yen

AU - Fischbeck, Kenneth

AU - Roses, Allen D.

AU - Pericak-Vance, Margaret A.

PY - 1991/4

Y1 - 1991/4

N2 - Charcot-Marie-Tooth (CMT) disease type 1a has been previously localized to chromosome 17 using the markers D17S58 and D17S71. In that report we were unable to provide unequivocal localization of the CMT1A gene on either the proximal p or the q arm. Therefore, data from one additional CMT1A family and typing of other probes spanning the pericentromeric region of chromosome 17 (D17S73, D17S58, D17S122, D17S125, D17S124) were analyzed. Multipoint analysis demonstrates convincing evidence (log likelihood difference > 5) that the CMT1A gene lies within 17p11.2 and most likely between the flanking markers D17S122 and D17S124.

AB - Charcot-Marie-Tooth (CMT) disease type 1a has been previously localized to chromosome 17 using the markers D17S58 and D17S71. In that report we were unable to provide unequivocal localization of the CMT1A gene on either the proximal p or the q arm. Therefore, data from one additional CMT1A family and typing of other probes spanning the pericentromeric region of chromosome 17 (D17S73, D17S58, D17S122, D17S125, D17S124) were analyzed. Multipoint analysis demonstrates convincing evidence (log likelihood difference > 5) that the CMT1A gene lies within 17p11.2 and most likely between the flanking markers D17S122 and D17S124.

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10.1016/0888-7543(91)90355-I