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

Hum Mutat. 2000 Aug;16(2):177-8. doi: 10.1002/1098-1004(200008)16:2<177::AID-HUMU14>3.0.CO;2-5.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Pair Mismatch
  • Charcot-Marie-Tooth Disease / enzymology
  • Charcot-Marie-Tooth Disease / genetics*
  • Connexins / genetics*
  • DNA Mutational Analysis / methods
  • Female
  • Humans
  • Hydrolysis
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Myelin P0 Protein / genetics*
  • Myelin P0 Protein / metabolism
  • Myelin Proteins / genetics
  • Phenotype
  • Ribonucleases / genetics
  • Ribonucleases / metabolism*

Substances

  • Connexins
  • Myelin P0 Protein
  • Myelin Proteins
  • PMP22 protein, human
  • connexin 32
  • Ribonucleases