Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis
Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis
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DOI：
10.1212/wnl.52.9.1899
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发表时间：
1999-06-10
期刊：
影响因子：
9.9
通讯作者：
Brock, DJH
中科院分区：
文献类型：
--
作者：
Hayward, C;Colville, S;Brock, DJH
我们分析了ALS患者的基因组DNA中无尿嘧啶/无嘧啶核酸酶（APEX核酸酶）基因的突变。我们在该基因的非翻译区发现了三种罕见的多态性和一种常见的双等位基因多态性（D148E）。与对照组相比，散发性ALS患者的D148E等位基因频率有显著差异。在散发性ALS患者中也发现了保守的氨基酸变化和4碱基对缺失。这些数据表明，APEX核酸酶可能与ALS的病因有关。
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.