High incidence of a survival motor neuron gene/cBCD541 gene ratio of 2 in Japanese parents of spinal muscular atrophy patients: a characteristic background of spinal muscular atrophy in Japan?

J Neurol. 1999 Jan;246(1):48-52. doi: 10.1007/s004150050305.

Abstract

Most spinal muscular atrophy (SMA) patients lack the survival motor neuron gene (SMN). However, the patients retain at least one copy of the cBCD541 gene (BCD), which is highly homologous with SMN. Here, we determined the SMN/BCD copy number ratios (the S/B ratios) of 12 parents of Japanese SMA patients with a homozygous SMN deletion, using competitive oligonucleotide priming polymerase chain reaction. We identified an S/B ratio of 2 in 25% of the parents examined, whereas less than 2% of parents of SMA patients in Western populations have an S/B ratio of 2. The high incidence of an S/B ratio of 2 in Japanese parents of SMA patients may reflect the characteristic genetic background of SMA in Japan.

MeSH terms

  • Female
  • Genetic Markers
  • Humans
  • Japan / ethnology
  • Kruppel-Like Factor 6
  • Kruppel-Like Transcription Factors
  • Male
  • Muscular Atrophy, Spinal / ethnology
  • Muscular Atrophy, Spinal / genetics*
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Proto-Oncogene Proteins / genetics*
  • RNA-Binding Proteins
  • Trans-Activators*

Substances

  • GEMIN2 protein, human
  • Genetic Markers
  • KLF6 protein, human
  • Kruppel-Like Factor 6
  • Kruppel-Like Transcription Factors
  • Nerve Tissue Proteins
  • Proto-Oncogene Proteins
  • RNA-Binding Proteins
  • Trans-Activators