Evidence for Linkage of Charcot-Marie-Tooth Neuropathy to the Duffy
Locus on Chromosome 1.
TD Bird, J Ott, ER Giblett
American Journal of Human Genetics ,
34(3), 388-394 (1982 May)
Abstract
A linkage study was performed on three families with classic
Charcot-Marie-Tooth (CMT) hereditary neuropathy with clinical
manifestations of autosomal dominant inheritance, distal muscle
weakness and atrophy, hyporeflexia, and slow motor nerve conduction
velocities. Two families comprising 3 and 4 generations and a total
of 23 affected persons were informative for the Duffy locus known to
be on the long arm of chromosome 1. The maximum total lod score was
2.297 at recombination fraction theta = .1. The third family was
informative for PGM1 (on the short arm of chromosome 1). There was
no evidence for linkage of CMT to PGM1 in this third family, but
only values of theta less than .03 could be excluded. There was no
evidence for linkage of CMT to seven other informative markers in
these families. We conclude that the gene controlling the occurrence
of dominant CMT may be approximately 10 centimorgans from the Duffy
locus on the long arm of chromosome 1. Additional studies are
required to confirm these findings.
