Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1.
Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) has been reported as a new type of HMSN with the disease gene locus in the 3p14.1-q13 region. To further narrow down the gene locus, we performed fine linkage mapping using the linkage disequilibrium method. Analysis of DNA marker haplotypes and genetic cross-over sites showed the disease gene locus to be in the 3.1 cM interval bracketed by D3S1591 and D3S1281. Linkage disequilibrium analysis with DISMULT using 9 marker loci jointly in this region showed a lod score of 4.93 (P < 0.00000095). Consequently, the HMSN-P gene almost certainly lies on chromosome 3q13.1 and shows evidence of linkage disequilibrium.
Takashima
H
H
Third Department of Internal Medicine, Kagoshima University School of Medicine, Japan.
Nakagawa
M
M
Suehara
M
M
Saito
M
M
Saito
A
A
Kanzato
N
N
Matsuzaki
T
T
Hirata
K
K
Terwilliger
J D
JD
Osame
M
M
D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D003434:Crossing Over, Genetic; D005260:Female; D005819:Genetic Markers; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D008126:Lod Score; D008297:Male; D010375:Pedigree
D005819:Genetic Markers