Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis

C Hayward; S Colville; R J Swingler; D J Brock

doi:10.1212/wnl.52.9.1899

Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis

Neurology. 1999 Jun 10;52(9):1899-901. doi: 10.1212/wnl.52.9.1899.

Authors

C Hayward¹, S Colville, R J Swingler, D J Brock

Affiliation

¹ Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Scotland.

PMID: 10371543
DOI: 10.1212/wnl.52.9.1899

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Amyotrophic Lateral Sclerosis / genetics*
Carbon-Oxygen Lyases / genetics*
DNA Mutational Analysis
DNA Primers
DNA-(Apurinic or Apyrimidinic Site) Lyase
Deoxyribonuclease IV (Phage T4-Induced)
Humans
Polymerase Chain Reaction
Polymorphism, Genetic / genetics
Polymorphism, Single-Stranded Conformational
Superoxide Dismutase / genetics*

Substances

DNA Primers
Superoxide Dismutase
Deoxyribonuclease IV (Phage T4-Induced)
Carbon-Oxygen Lyases
DNA-(Apurinic or Apyrimidinic Site) Lyase