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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Othmane, KB; Loeb, D; Hayworth-Hodgte, R; Hentati, F; Rao, N; Roses, AD; Ben Hamida, M; Pericak-Vance, MA; Vance, JM

Published Date

  • July 20, 1995

Published In

Volume / Issue

  • 28 / 2

Start / End Page

  • 286 - 290

PubMed ID

  • 8530038

International Standard Serial Number (ISSN)

  • 0888-7543

Digital Object Identifier (DOI)

  • 10.1006/geno.1995.1143


  • eng

Conference Location

  • United States