Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region

Roger V. Lebo; Phillip F. Chance; Peter J. Dyck; Ma Theresa Redila-Flores; Eric D. Lynch; Mitchell S. Golbus; Thomas D. Bird; Mary Claire King; Lee A. Anderson; Jeffrey Hall; Joop Wiegant; Zharong Jiang; Paul F. Dazin; Hope H. Punnett; Steven A. Schonberg; Kevin Moore; Marcia M. Shull; Sandra Gendler; Orest Hurko; Robert E. Lovelace; Norman Latov; James Trofatter; P. Michael Conneally

doi:10.1007/BF00204921

Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region

Roger V. Lebo, Phillip F. Chance, Peter J. Dyck, Ma Theresa Redila-Flores, Eric D. Lynch, Mitchell S. Golbus, Thomas D. Bird, Mary Claire King, Lee A. Anderson, Jeffrey Hall, Joop Wiegant, Zharong Jiang, Paul F. Dazin, Hope H. Punnett, Steven A. Schonberg, Kevin Moore, Marcia M. Shull, Sandra Gendler, Orest Hurko, Robert E. LovelaceNorman Latov, James Trofatter, P. Michael Conneally

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Abstract

The Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy) loci have been reported to be on at least three chromosomes: 1 (CMT1B, HMSN1B), 17 (CMT1A), and X (CMTX). In this study multipoint linkage analysis of two Duffy-linked families given a combined LOD score of 8.65 to establish that the Duffy-linked CMT1B gene exists in the 18 centimorgan region between the antithrombin III gene and the Duffy/ sodium-potassium ATPase loci. The simultaneous segregation of polymorphisms near the CMT1A locus on chromosome 17 excludes linkage to this chromosome region in both families. Polymorphic sites that flank the CMT1B gene have been subchromosomally localized to the proximal chromosome-1 long arm (1q21.2→1q25) by spot blot analysis of sorted chromosomes, polymorphic deletion analysis, in situ hybridization, and multipoint linkage analysis.

Original language	English (US)
Pages (from-to)	1-12
Number of pages	12
Journal	Human genetics
Volume	88
Issue number	1
DOIs	https://doi.org/10.1007/BF00204921
State	Published - Nov 1991

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1007/BF00204921

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Lebo, R. V., Chance, P. F., Dyck, P. J., Redila-Flores, M. T., Lynch, E. D., Golbus, M. S., Bird, T. D., King, M. C., Anderson, L. A., Hall, J., Wiegant, J., Jiang, Z., Dazin, P. F., Punnett, H. H., Schonberg, S. A., Moore, K., Shull, M. M., Gendler, S., Hurko, O., ... Conneally, P. M. (1991). Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region. Human genetics, 88(1), 1-12. https://doi.org/10.1007/BF00204921

Lebo, RV, Chance, PF, Dyck, PJ, Redila-Flores, MT, Lynch, ED, Golbus, MS, Bird, TD, King, MC, Anderson, LA, Hall, J, Wiegant, J, Jiang, Z, Dazin, PF, Punnett, HH, Schonberg, SA, Moore, K, Shull, MM, Gendler, S, Hurko, O, Lovelace, RE, Latov, N, Trofatter, J & Conneally, PM 1991, 'Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region', Human genetics, vol. 88, no. 1, pp. 1-12. https://doi.org/10.1007/BF00204921

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title = "Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region",

abstract = "The Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy) loci have been reported to be on at least three chromosomes: 1 (CMT1B, HMSN1B), 17 (CMT1A), and X (CMTX). In this study multipoint linkage analysis of two Duffy-linked families given a combined LOD score of 8.65 to establish that the Duffy-linked CMT1B gene exists in the 18 centimorgan region between the antithrombin III gene and the Duffy/ sodium-potassium ATPase loci. The simultaneous segregation of polymorphisms near the CMT1A locus on chromosome 17 excludes linkage to this chromosome region in both families. Polymorphic sites that flank the CMT1B gene have been subchromosomally localized to the proximal chromosome-1 long arm (1q21.2→1q25) by spot blot analysis of sorted chromosomes, polymorphic deletion analysis, in situ hybridization, and multipoint linkage analysis.",

author = "Lebo, {Roger V.} and Chance, {Phillip F.} and Dyck, {Peter J.} and Redila-Flores, {Ma Theresa} and Lynch, {Eric D.} and Golbus, {Mitchell S.} and Bird, {Thomas D.} and King, {Mary Claire} and Anderson, {Lee A.} and Jeffrey Hall and Joop Wiegant and Zharong Jiang and Dazin, {Paul F.} and Punnett, {Hope H.} and Schonberg, {Steven A.} and Kevin Moore and Shull, {Marcia M.} and Sandra Gendler and Orest Hurko and Lovelace, {Robert E.} and Norman Latov and James Trofatter and Conneally, {P. Michael}",

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doi = "10.1007/BF00204921",

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AU - Lebo, Roger V.

AU - Chance, Phillip F.

AU - Dyck, Peter J.

AU - Redila-Flores, Ma Theresa

AU - Lynch, Eric D.

AU - Golbus, Mitchell S.

AU - Bird, Thomas D.

AU - King, Mary Claire

AU - Anderson, Lee A.

AU - Hall, Jeffrey

AU - Wiegant, Joop

AU - Jiang, Zharong

AU - Dazin, Paul F.

AU - Punnett, Hope H.

AU - Schonberg, Steven A.

AU - Moore, Kevin

AU - Shull, Marcia M.

AU - Gendler, Sandra

AU - Hurko, Orest

AU - Lovelace, Robert E.

AU - Latov, Norman

AU - Trofatter, James

AU - Conneally, P. Michael

PY - 1991/11

Y1 - 1991/11

N2 - The Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy) loci have been reported to be on at least three chromosomes: 1 (CMT1B, HMSN1B), 17 (CMT1A), and X (CMTX). In this study multipoint linkage analysis of two Duffy-linked families given a combined LOD score of 8.65 to establish that the Duffy-linked CMT1B gene exists in the 18 centimorgan region between the antithrombin III gene and the Duffy/ sodium-potassium ATPase loci. The simultaneous segregation of polymorphisms near the CMT1A locus on chromosome 17 excludes linkage to this chromosome region in both families. Polymorphic sites that flank the CMT1B gene have been subchromosomally localized to the proximal chromosome-1 long arm (1q21.2→1q25) by spot blot analysis of sorted chromosomes, polymorphic deletion analysis, in situ hybridization, and multipoint linkage analysis.

AB - The Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy) loci have been reported to be on at least three chromosomes: 1 (CMT1B, HMSN1B), 17 (CMT1A), and X (CMTX). In this study multipoint linkage analysis of two Duffy-linked families given a combined LOD score of 8.65 to establish that the Duffy-linked CMT1B gene exists in the 18 centimorgan region between the antithrombin III gene and the Duffy/ sodium-potassium ATPase loci. The simultaneous segregation of polymorphisms near the CMT1A locus on chromosome 17 excludes linkage to this chromosome region in both families. Polymorphic sites that flank the CMT1B gene have been subchromosomally localized to the proximal chromosome-1 long arm (1q21.2→1q25) by spot blot analysis of sorted chromosomes, polymorphic deletion analysis, in situ hybridization, and multipoint linkage analysis.

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Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region

Abstract

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