Screening of AP endonuclease as a candidate gene for amyotrophic lateral sclerosis (ALS)

Neuroreport. 2000 Jun 5;11(8):1695-7. doi: 10.1097/00001756-200006050-00020.

Abstract

DNA extracted from CNS tissue of 84 patients was screened by single-stranded conformation polymorphism (SSCP) and heteroduplex analysis for mutations in the apurinic/apyrimidinic endonuclease (APE) gene. One mutation was identified and characterized as a 4bp deletion in the 3'UTR. A rare polymorphism was identified in exon 3 and a common polymorphism in the coding region of exon 5. These results suggest that APE mutations do not account for a large number of ALS cases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions / genetics
  • Amino Acid Substitution
  • Amyotrophic Lateral Sclerosis / genetics*
  • Carbon-Oxygen Lyases / genetics*
  • DNA-(Apurinic or Apyrimidinic Site) Lyase
  • Deoxyribonuclease IV (Phage T4-Induced)
  • Exons / genetics
  • Gene Deletion
  • Genetic Testing*
  • Heteroduplex Analysis
  • Heterozygote
  • Homozygote
  • Humans
  • Polymorphism, Genetic / genetics
  • Polymorphism, Single-Stranded Conformational

Substances

  • 3' Untranslated Regions
  • Deoxyribonuclease IV (Phage T4-Induced)
  • Carbon-Oxygen Lyases
  • DNA-(Apurinic or Apyrimidinic Site) Lyase