Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A

K. Ben Othmane, D. Loeb, R. Hayworth-Hodgte, F. Hentati, N. Rao, A. D. Roses, M. Ben Hamida, M. A. Pericak-Vance, J. M. Vance

Research output: Contribution to journalArticle

30 Scopus citations

Abstract

We have previously localized one form of the autosomal recessive Charcot- Marie-Tooth disease type 4 (CMT4A) to a 5-cM region of chromosome 8q13-q21. We now report the formation of a 7-Mb YAC contig spanning the region. This contig was used to map nine additional microsatellites and six STSs to this region, and subsequent haplotype analysis has narrowed the CMT4A flanking interval to less than 1 cM. In addition, using SSCP and our physical map, we have demonstrated that the myelin protein PMP-2, mapped by FISH to this region, is not the defect in CMT4A.

Original languageEnglish (US)
Pages (from-to)286-290
Number of pages5
JournalGenomics
Volume28
Issue number2
DOIs
StatePublished - Jul 20 1995
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Othmane, K. B., Loeb, D., Hayworth-Hodgte, R., Hentati, F., Rao, N., Roses, A. D., Hamida, M. B., Pericak-Vance, M. A., & Vance, J. M. (1995). Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. Genomics, 28(2), 286-290. https://doi.org/10.1006/geno.1995.1143