Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432.
As part of an on-going genomic screen of unlinked Charcot-Marie-Tooth disease type 2 (CMT2) families, we identified 11 regions in the genome with lod scores > or = 1.0. One of these regions was near the recently identified CMTDI1 locus on 19q. We show evidence of linkage of DUK 1118 to this region and our data reduce the minimum candidate interval for CMTDI1 to the 9-cM interval spanned by D19S586 and D19S432. We also demonstrate that five additional CMT2 families are unlinked to 19q markers, providing further evidence of CMT2 heterogeneity.
Speer
Marcy C
MC
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA. marcy@chg.mc.duke.edu
Graham
Felicia Lennon
FL
Bonner
Erin
E
Collier
Keva
K
Stajich
Jeffrey M
JM
Gaskell
Perry C
PC
Pericak-Vance
Margaret A
MA
Vance
Jeffery M
JM
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree
D005819:Genetic Markers