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

被引:73
作者
Hayward, C [1 ]
Colville, S
Swingler, RJ
Brock, DJH
机构
[1] Univ Edinburgh, Western Gen Hosp, Human Genet Unit, Mol Med Ctr, Edinburgh EH4 2XU, Midlothian, Scotland
[2] Ninewells Hosp, Dept Neurol, Dundee DD1 9SY, Scotland
关键词
D O I
10.1212/WNL.52.9.1899
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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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页码:1899 / 1901
页数:3
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