Linkage localization of X-linked Charcot-Marie-Tooth disease

JoAnn Bergoffen, James Trofatter, Margaret A Pericak-Vance, Jonathan L. Haines, Phillip F. Chance, Kenneth H. Fischbeck

Research output: Contribution to journalArticle

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Abstract

Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is a heterogeneous group of slowly progressive, degenerative disorders of peripheral nerve. X-linked CMT (CMTX) (McKusick 302800), a subdivision of type I, or demyelinating, CMT is an X-linked dominant condition with variable penetrance. Previous linkage analysis using RFLPs demonstrated linkage to markers on the proximal long and short arms of the X chromosome, with the more likely localization on the proximal long arm of the X chromosome. Available variable simple-sequence repeats (VSSRs) broaden the possibilities for linkage analysis. This paper presents new linkage data and recombination analysis derived from work with four VSSR markers - AR, PGKP1, DXS453, and DXYS1X - in addition to analysis using RFLP markers described elsewhere. These studies localize the CMTX gene to the proximal Xq segment between PGKP1 (Xq11.2-12) and DXS72 (Xq21.1), with a combined maximum multipoint lod score of 15.3 at DXS453 (θ = 0).

Original languageEnglish
Pages (from-to)312-318
Number of pages7
JournalAmerican Journal of Human Genetics
Volume52
Issue number2
StatePublished - Feb 1 1993
Externally publishedYes

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Charcot-Marie-Tooth Disease
X Chromosome
Restriction Fragment Length Polymorphisms
Microsatellite Repeats
Hereditary Sensory and Motor Neuropathy
Lod Score
Penetrance
Peripheral Nerves
Genetic Recombination
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Bergoffen, J., Trofatter, J., Pericak-Vance, M. A., Haines, J. L., Chance, P. F., & Fischbeck, K. H. (1993). Linkage localization of X-linked Charcot-Marie-Tooth disease. American Journal of Human Genetics, 52(2), 312-318.

Linkage localization of X-linked Charcot-Marie-Tooth disease. / Bergoffen, JoAnn; Trofatter, James; Pericak-Vance, Margaret A; Haines, Jonathan L.; Chance, Phillip F.; Fischbeck, Kenneth H.

In: American Journal of Human Genetics, Vol. 52, No. 2, 01.02.1993, p. 312-318.

Research output: Contribution to journalArticle

Bergoffen, J, Trofatter, J, Pericak-Vance, MA, Haines, JL, Chance, PF & Fischbeck, KH 1993, 'Linkage localization of X-linked Charcot-Marie-Tooth disease', American Journal of Human Genetics, vol. 52, no. 2, pp. 312-318.
Bergoffen J, Trofatter J, Pericak-Vance MA, Haines JL, Chance PF, Fischbeck KH. Linkage localization of X-linked Charcot-Marie-Tooth disease. American Journal of Human Genetics. 1993 Feb 1;52(2):312-318.
Bergoffen, JoAnn ; Trofatter, James ; Pericak-Vance, Margaret A ; Haines, Jonathan L. ; Chance, Phillip F. ; Fischbeck, Kenneth H. / Linkage localization of X-linked Charcot-Marie-Tooth disease. In: American Journal of Human Genetics. 1993 ; Vol. 52, No. 2. pp. 312-318.
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