A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy

Jpn J Hum Genet. 1994 Sep;39(3):345-51. doi: 10.1007/BF01874053.


A prenatal diagnosis was performed in a family with X-linked adrenoleukodystrophy (ALD). A fetus was at high risk of suffering the disease by segregation analysis and by very long chain fatty acid-CoA synthetase activity assay. A transition (G to A) at codon 617 of the candidate ALD gene was detected by reverse transcription PCR (RT-PCR) based sequencing of the fetal liver RNA. The mutation was located in highly conserved ATP-binding site in this gene and deduced amino acid transversion R617H was thought to be the cause of ALD in this family.

Publication types

  • Case Reports

MeSH terms

  • Adenosine Triphosphate / metabolism*
  • Adrenoleukodystrophy / diagnosis
  • Adrenoleukodystrophy / genetics*
  • Base Sequence
  • Binding Sites
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics
  • Genes*
  • Genetic Linkage*
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Pregnancy
  • Prenatal Diagnosis
  • X Chromosome / genetics*
  • X Chromosome / metabolism


  • Adenosine Triphosphate