Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis. |
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| Authors: | C Hayward S Colville R J Swingler D J Brock |
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| Institution: | Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Scotland. |
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| 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. |
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