Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

J. M. Vance; G. A. Nicholson; L. H. Yamaoka; J. Stajich; C. S. Stewart; M. C. Speer; W. Y. Hung; A. D. Roses; D. Barker; M. A. Pericak-Vance

doi:10.1016/S0014-4886(89)80013-5

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

J. M. Vance^*, G. A. Nicholson, L. H. Yamaoka, J. Stajich, C. S. Stewart, M. C. Speer, W. Y. Hung, A. D. Roses, D. Barker, M. A. Pericak-Vance

^*Corresponding author for this work

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Abstract

Charcot-Marie-Tooth disease Type 1 (CMT) is an inherited neuropathy with known genetic heterogeneity, with at least one autosomal dominant form (CMT Type 1b) linked to the Duffy region of chromosome 1. Autosomal dominant families not demonstrating linkage to the Duffy blood group marker have been designated CMT Type 1a. We report linkage of six CMT Type 1a families to the chromosome 17 markers EW301 (D17S58) and pA10-41 (D17S71) with maximum LOD scores of z = 10.49 at θ (maximum recombination fraction) = 0.05 and z = 7.36 at θ = 0.06, respectively.

Original language	English
Pages (from-to)	186-189
Number of pages	4
Journal	Experimental Neurology
Volume	104
Issue number	2
DOIs	https://doi.org/10.1016/S0014-4886(89)80013-5
Publication status	Published - 1989
Externally published	Yes

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title = "Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17",

abstract = "Charcot-Marie-Tooth disease Type 1 (CMT) is an inherited neuropathy with known genetic heterogeneity, with at least one autosomal dominant form (CMT Type 1b) linked to the Duffy region of chromosome 1. Autosomal dominant families not demonstrating linkage to the Duffy blood group marker have been designated CMT Type 1a. We report linkage of six CMT Type 1a families to the chromosome 17 markers EW301 (D17S58) and pA10-41 (D17S71) with maximum LOD scores of z = 10.49 at θ (maximum recombination fraction) = 0.05 and z = 7.36 at θ = 0.06, respectively.",

author = "Vance, {J. M.} and Nicholson, {G. A.} and Yamaoka, {L. H.} and J. Stajich and Stewart, {C. S.} and Speer, {M. C.} and Hung, {W. Y.} and Roses, {A. D.} and D. Barker and Pericak-Vance, {M. A.}",

year = "1989",

doi = "10.1016/S0014-4886(89)80013-5",

language = "English",

volume = "104",

pages = "186--189",

journal = "Experimental Neurology",

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TY - JOUR

T1 - Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

AU - Vance, J. M.

AU - Nicholson, G. A.

AU - Yamaoka, L. H.

AU - Stajich, J.

AU - Stewart, C. S.

AU - Speer, M. C.

AU - Hung, W. Y.

AU - Roses, A. D.

AU - Barker, D.

AU - Pericak-Vance, M. A.

PY - 1989

Y1 - 1989

N2 - Charcot-Marie-Tooth disease Type 1 (CMT) is an inherited neuropathy with known genetic heterogeneity, with at least one autosomal dominant form (CMT Type 1b) linked to the Duffy region of chromosome 1. Autosomal dominant families not demonstrating linkage to the Duffy blood group marker have been designated CMT Type 1a. We report linkage of six CMT Type 1a families to the chromosome 17 markers EW301 (D17S58) and pA10-41 (D17S71) with maximum LOD scores of z = 10.49 at θ (maximum recombination fraction) = 0.05 and z = 7.36 at θ = 0.06, respectively.

AB - Charcot-Marie-Tooth disease Type 1 (CMT) is an inherited neuropathy with known genetic heterogeneity, with at least one autosomal dominant form (CMT Type 1b) linked to the Duffy region of chromosome 1. Autosomal dominant families not demonstrating linkage to the Duffy blood group marker have been designated CMT Type 1a. We report linkage of six CMT Type 1a families to the chromosome 17 markers EW301 (D17S58) and pA10-41 (D17S71) with maximum LOD scores of z = 10.49 at θ (maximum recombination fraction) = 0.05 and z = 7.36 at θ = 0.06, respectively.

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U2 - 10.1016/S0014-4886(89)80013-5

DO - 10.1016/S0014-4886(89)80013-5

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AN - SCOPUS:0024510662

SN - 0014-4886

VL - 104

SP - 186

EP - 189

JO - Experimental Neurology

JF - Experimental Neurology

IS - 2

ER -

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

Abstract

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