Linkage localization of X-linked Charcot-Marie-Tooth disease.
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).
Bergoffen
J
J
Department of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA.
Trofatter
J
J
Pericak-Vance
M A
MA
Haines
J L
JL
Chance
P F
PF
Fischbeck
K H
KH
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
D005819:Genetic Markers