Exclusion analysis of Charcot-Marie-Tooth neuropathy (CMT1) with chromosome 1p markers.
We previously described a large five-generation family with autosomal dominant inheritance of hereditary motor and sensory neuropathy type I, or Charcot-Marie-Tooth disease (CMT1). The genetic defect in this family was not linked to the Duffy blood group. We investigated the possibility of a disease locus on the short arm of chromosome 1 using 12 anonymous DNA markers. Two markers, D1S2 and D1S22, showed positive linkage, suggesting the existence of a CMT1 locus on 1p. D1S2 and D1S22 are clustered in the 1p31----p22 region. However, multipoint linkage analysis, including additional DNA markers from this chromosome region, excluded a possible CMT1 locus in this part of chromosome 1.
Raeymaekers
P
P
Department of Biochemistry, University of Antwerp, Belgium.
De Jonghe
P
P
Swerts
L
L
De Winter
G
G
Gheuens
J
J
Martin
J J
JJ
Vandenberghe
A
A
Van Broeckhoven
C
C
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006801:Humans; D008126:Lod Score; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length