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

Kamel Ben Othmane, Julie M. Rochelle, Mongi Ben Hamida, Brandon Slotterbeck, Nagesh Rao, Faycal Hentati, Margaret A. Pericak-Vance, Jeffery M. Vance

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)18-23
Number of pages6
Issue number1
StatePublished - Dec 1 1998
Externally publishedYes


  • Charcot-Marie-Tooth
  • CMT4A
  • Haplotype analysis
  • PAC contigs

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)


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