Linkage in a family with X-linked Charcot-Marie-Tooth disease.
The gene for the X-linked form of Charcot-Marie-Tooth disease (CMT Peroneal Muscular Atrophy, X-linked: McKusick No. 30280) has been shown in a single family to be linked to DXYS1 with a lod score of 4.55 at a recombination fraction of 0.03 and to PGK1 with a lod score of 3.34 at zero recombination. This is in agreement with previous work based on several families. Pooled data from this family and 7 previously reported families give a maximum lod score of 12.04 at theta max of 0.05 for linkage between CMTX and DXYS1 loci.
Haites
N
N
Department of Genetics, University of Aberdeen, Scotland, UK.
Fairweather
N
N
Clark
C
C
Kelly
K F
KF
Simpson
S
S
Johnston
A W
AW
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D004247:DNA / Q000302:isolation & purification; D015342:DNA Probes; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA