Screening of AP endonuclease as a candidate gene for amyotrophic lateral sclerosis (ALS).
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.
Tomkins
J
J
Department of Neurology, University of Newcastle-upon-Tyne, Medical School, UK.
Dempster
S
S
Banner
S J
SJ
Cookson
M R
MR
Shaw
P J
PJ
D020413:3' Untranslated Regions / Q000235:genetics; D019943:Amino Acid Substitution; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D019757:Carbon-Oxygen Lyases / Q000235:genetics*; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase; D043223:Deoxyribonuclease IV (Phage T4-Induced); D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D005820:Genetic Testing; D020180:Heteroduplex Analysis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational
D020413:3' Untranslated Regions; D043223:Deoxyribonuclease IV (Phage T4-Induced); D019757:Carbon-Oxygen Lyases; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase