Fine localization of the CMT4A locus using a PAC contig and haplotype analysis.

Journal Article (Journal Article)

Charcot-Marie-Tooth disease type 4A (CMT4A) is a severe, autosomal recessive peripheral neuropathy linked to chromosome 8q13-q21. We have previously constructed a YAC contig across the CMT4A region and narrowed the disease-flanking interval to approximately three megabases. Subsequently, we constructed a PAC/BAC contig made of 44 clones and mapped 44 new and 30 previous STSs, ESTs, and polymorphic makers to the region. Using 13 polymorphic markers, we have now identified an ancestral haplotype segregating in three families, indicating a common founder mutation. Two ancestral recombination events in this haplotype significantly reduce the minimal candidate region to a minimal trailing path of five PAC/BAC clones, which will now allow direct investigation of candidate genes for CMT4A.

Full Text

Duke Authors

Cited Authors

  • Ben Othmane, K; Rochelle, JM; Ben Hamida, M; Slotterbeck, B; Rao, N; Hentati, F; Pericak-Vance, MA; Vance, JM

Published Date

  • December 1998

Published In

Volume / Issue

  • 2 / 1

Start / End Page

  • 18 - 23

PubMed ID

  • 9933296

International Standard Serial Number (ISSN)

  • 1364-6745

Digital Object Identifier (DOI)

  • 10.1007/s100480050047


  • eng

Conference Location

  • United States