Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
Mutations of myelin protein zero (MPZ) and connexin32 (Cx32) genes were examined in 70 unrelated Japanese patients with Charcot-Marie-Tooth disease (CMT) without PMP22 gene duplication. A new method, which could detect base pair mismatches with Rnase cleavage on agarose gel electrophoresis, identified 5 and 4 mutations of the MPZ and Cx32 genes, respectively, including one novel mutation (Ser128Ter) of Cx32. This non-isotopic RNase cleavage assay (NIRCA) employed in the present study is very suitable for exploring mutations of MPZ and Cx32 genes in a large number of CMT patients, as the phenotype of patients with CMT is greatly divergent from demyelinating to axonal pathology.
Yoshihara
T
T
Department of Neurology, Nagoya University School of Medicine, Nagoya, Japan.
Yamamoto
M
M
Doyu
M
M
Mis
K I
KI
Hattori
N
N
Hasegawa
Y
Y
Mokuno
K
K
Mitsuma
T
T
Sobue
G
G
D000293:Adolescent; D000328:Adult; D020137:Base Pair Mismatch; D002607:Charcot-Marie-Tooth Disease / Q000201:enzymology / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D006868:Hydrolysis; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D018993:Myelin P0 Protein / Q000235:genetics* / Q000378:metabolism; D009185:Myelin Proteins / Q000235:genetics; D010641:Phenotype; D012260:Ribonucleases / Q000235:genetics / Q000378:metabolism*; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D018993:Myelin P0 Protein; D009185:Myelin Proteins; D012260:Ribonucleases; D000097002:Gap Junction beta-1 Protein; C073687:PMP22 protein, human