title: Linkage localization of X-linked Charcot-Marie-Tooth disease.
abstract: Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is a heterogeneous group of slowly progressive, degenerative disorders of peripheral nerve. X-linked CMT (CMTX) (McKusick 302800), a subdivision of type I, or demyelinating, CMT is an X-linked dominant condition with variable penetrance. Previous linkage analysis using RFLPs demonstrated linkage to markers on the proximal long and short arms of the X chromosome, with the more likely localization on the proximal long arm of the X chromosome. Available variable simple-sequence repeats (VSSRs) broaden the possibilities for linkage analysis. This paper presents new linkage data and recombination analysis derived from work with four VSSR markers--AR, PGKP1, DXS453, and DXYS1X--in addition to analysis using RFLP markers described elsewhere. These studies localize the CMTX gene to the proximal Xq segment between PGKP1 (Xq11.2-12) and DXS72 (Xq21.1), with a combined maximum multipoint lod score of 15.3 at DXS453 (theta = 0).
authors.affiliation: Department of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA.
authors.forename: J
authors.initials: J
authors.lastname: Bergoffen
authors.forename: J
authors.initials: J
authors.lastname: Trofatter
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.forename: J L
authors.initials: JL
authors.lastname: Haines
authors.forename: P F
authors.initials: PF
authors.lastname: Chance
authors.forename: K H
authors.initials: KH
authors.lastname: Fischbeck
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002874:Chromosome Mapping / Q000379:methods*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008540:Meiosis; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid; D014960:X Chromosome
chemical_list: D005819:Genetic Markers