Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.
Charcot-Marie-Tooth disease type 1a (CMT 1a) is an autosomal dominant peripheral neuropathy linked to the DNA markers D17S58 and D17S71, located in the pericentromeric region of the chromosome 17p arm. We analyzed an extended 5-generation Belgian family, multiply affected with CMT 1a, for linkage with eight chromosome 17 markers. The results indicated that the CMT 1a mutation is localized in the chromosomal region 17p11.2-p12 between the marker D17S71 and the gene for myosin heavy polypeptide 2 of adult skeletal muscle.
Timmerman
V
V
Department of Biochemistry, University of Antwerp, Belgium.
Raeymaekers
P
P
De Jonghe
P
P
De Winter
G
G
Swerts
L
L
Jacobs
K
K
Gheuens
J
J
Martin
J J
JJ
Vandenberghe
A
A
Van Broeckhoven
C
C
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D015342:DNA Probes; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D010957:Plasmids
D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA