title: Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis.
abstract: We analyzed genomic DNA from ALS patients for mutations in the apurinic/apyrimidinic endonuclease (APEX nuclease) gene. We identified three rare polymorphisms in the untranslated region of the gene and one common two-allele polymorphism (D148E). The allelic frequency D148E was significantly different in sporadic ALS patients compared with controls. A conserved amino acid change and a 4-base pair deletion were also identified in sporadic ALS patients. These data suggest that APEX nuclease may contribute to the etiology of ALS.
authors.affiliation: Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Scotland.
authors.forename: C
authors.initials: C
authors.lastname: Hayward
authors.forename: S
authors.initials: S
authors.lastname: Colville
authors.forename: R J
authors.initials: RJ
authors.lastname: Swingler
authors.forename: D J
authors.initials: DJ
authors.lastname: Brock
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D019757:Carbon-Oxygen Lyases / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase; D043223:Deoxyribonuclease IV (Phage T4-Induced); D006801:Humans; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D017931:DNA Primers; D013482:Superoxide Dismutase; D043223:Deoxyribonuclease IV (Phage T4-Induced); D019757:Carbon-Oxygen Lyases; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase