Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2

Jeffery M. Vance, David Barker, Larry H. Yamaoka, Jeffrey M. Stajich, Lorraine Loprest, Wu Yen Hung, Kenneth Fischbeck, Allen D. Roses, Margaret A. Pericak-Vance

Research output: Contribution to journalArticle

67 Scopus citations

Abstract

Charcot-Marie-Tooth (CMT) disease type 1a has been previously localized to chromosome 17 using the markers D17S58 and D17S71. In that report we were unable to provide unequivocal localization of the CMT1A gene on either the proximal p or the q arm. Therefore, data from one additional CMT1A family and typing of other probes spanning the pericentromeric region of chromosome 17 (D17S73, D17S58, D17S122, D17S125, D17S124) were analyzed. Multipoint analysis demonstrates convincing evidence (log likelihood difference > 5) that the CMT1A gene lies within 17p11.2 and most likely between the flanking markers D17S122 and D17S124.

Original languageEnglish (US)
Pages (from-to)623-628
Number of pages6
JournalGenomics
Volume9
Issue number4
DOIs
StatePublished - Apr 1991
Externally publishedYes

    Fingerprint

ASJC Scopus subject areas

  • Genetics

Cite this

Vance, J. M., Barker, D., Yamaoka, L. H., Stajich, J. M., Loprest, L., Hung, W. Y., Fischbeck, K., Roses, A. D., & Pericak-Vance, M. A. (1991). Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2. Genomics, 9(4), 623-628. https://doi.org/10.1016/0888-7543(91)90355-I