Screening of AP Endonuclease As a Candidate Gene for Amyotrophic Lateral Sclerosis (ALS)

Overview

Journal Neuroreport

Specialty Neurology

Date 2000 Jun 14

PMID 10852227

Citations 10

Authors

J Tomkins

S Dempster

S J Banner

M R Cookson

P J Shaw

Affiliations

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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.

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