DNA duplication associated with Charcot-Marie-Tooth disease type 1A

James R. Lupski, Roberto Montes de Oca-Luna, Susan Slaugenhaupt, Liu Pentao, Vito Guzzetta, Barbara J. Trask, Odila Saucedo-Cardenas, David F. Barker, James M. Killian, Carlos A. Garcia, Aravinda Chakravarti, Pragna I. Patel

Research output: Contribution to journalArticlepeer-review

1081 Scopus citations


Charcot-Marie-Tooth disease type 1A (CMT1A) was localized by genetic mapping to a 3 cM interval on human chromosome 17p. DNA markers within this interval revealed a duplication that is completely linked and associated with CMT1A. The duplication was demonstrated in affected individuals by the presence of three alleles at a highly polymorphic locus, by dosage differences at RFLP alleles, and by two-color fluorescence in situ hybridization. Pulsed-field gel electrophoresis of genomic DNA from patients of different ethnic origins showed a novel Sacll fragment of 500 kb associated with CMT1A. A severely affected CMT1A offspring from a mating between two affected individuals was demonstrated to have this duplication present on each chromosome 17. We have demonstrated that failure to recognize the molecular duplication can lead to misinterpretation of marker genotypes for affected individuals, identification of false recombinants, and incorrect localization of the disease locus.

Original languageEnglish (US)
Pages (from-to)219-232
Number of pages14
Issue number2
StatePublished - Jul 26 1991
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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