Screening of AP endonuclease as a candidate gene for amyotrophic lateral sclerosis (ALS)

被引：23

作者：

Tomkins, A

Dempster, S

Banner, SJ

Cookson, MR

Shaw, PJ

机构：

[1] Newcastle Univ, Sch Biochem & Genet, Mol Genet Unit, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[2] Newcastle Univ, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

来源：

NEUROREPORT | 2000年 / 11卷 / 08期

关键词：

amyotrophic lateral sclerosis; apurinic/pyrimidinic endonuclease; mutation;

D O I：

10.1097/00001756-200006050-00020

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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 4 bp 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. NeuroReport 11:1695-1697 (C) 2000 Lippincott Williams & Wilkins.

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页码：1695 / 1697

页数：3

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