Construction of a sequence contig across the CMT4A region

M. Rochelle, J. Stajich, S. Dew-Knight, R. Baxter, John Gilbert, M. Ben Hamida, Margaret A Pericak-Vance, F. Hentati, Jeffery M Vance

Research output: Contribution to journalArticle

Abstract

Charcot-Marie-Tooth disease type 4A (CMT4A) is a severe, autosomal recessive peripheral neuropathy located on chromosome 8q13-q21. We have previously constructed a YAC contig across the CMT4A region and narrowed the disease-flanking interval to several PACs/BACs. We report here the construction of a shotgun BAC sequence, which was subsequently used to fill gaps in the existing public human genome sequence, completing a sequence contig across the region. This has allowed identification of nine additional polymorphic microsatellite repeats to narrow the region further and at least five potential candidate genes.

Original languageEnglish
Pages (from-to)33-34
Number of pages2
JournalActa Myologica
Volume20
Issue numberMAY
StatePublished - Jan 1 2001
Externally publishedYes

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Firearms
Peripheral Nervous System Diseases
Human Genome
Microsatellite Repeats
Chromosomes
Genes
Type 4A Charcot-Marie-Tooth disease

Keywords

  • Charcot-Marie-Tooth disease

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Clinical Neurology

Cite this

Rochelle, M., Stajich, J., Dew-Knight, S., Baxter, R., Gilbert, J., Ben Hamida, M., ... Vance, J. M. (2001). Construction of a sequence contig across the CMT4A region. Acta Myologica, 20(MAY), 33-34.

Construction of a sequence contig across the CMT4A region. / Rochelle, M.; Stajich, J.; Dew-Knight, S.; Baxter, R.; Gilbert, John; Ben Hamida, M.; Pericak-Vance, Margaret A; Hentati, F.; Vance, Jeffery M.

In: Acta Myologica, Vol. 20, No. MAY, 01.01.2001, p. 33-34.

Research output: Contribution to journalArticle

Rochelle, M, Stajich, J, Dew-Knight, S, Baxter, R, Gilbert, J, Ben Hamida, M, Pericak-Vance, MA, Hentati, F & Vance, JM 2001, 'Construction of a sequence contig across the CMT4A region', Acta Myologica, vol. 20, no. MAY, pp. 33-34.
Rochelle M, Stajich J, Dew-Knight S, Baxter R, Gilbert J, Ben Hamida M et al. Construction of a sequence contig across the CMT4A region. Acta Myologica. 2001 Jan 1;20(MAY):33-34.
Rochelle, M. ; Stajich, J. ; Dew-Knight, S. ; Baxter, R. ; Gilbert, John ; Ben Hamida, M. ; Pericak-Vance, Margaret A ; Hentati, F. ; Vance, Jeffery M. / Construction of a sequence contig across the CMT4A region. In: Acta Myologica. 2001 ; Vol. 20, No. MAY. pp. 33-34.
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