肌萎缩侧索硬化症中动力蛋白激活蛋白（DCTN1）基因p150亚基的点突变
Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.
作者信息
Münch C, Sedlmeier R, Meyer T, Homberg V, Sperfeld A D, Kurt A, Prudlo J, Peraus G, Hanemann C O, Stumm G, Ludolph A C
机构信息
Department of Neurology, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany.
出版信息
Neurology. 2004 Aug 24;63(4):724-6. doi: 10.1212/01.wnl.0000134608.83927.b1.
The authors report mutation screening of the p150 subunit of dynactin (DCTN1) and the cytoplasmic dynein heavy chain (DNCHC1) genes in 250 patients with ALS and 150 unrelated control subjects. Heterozygous missense mutations of the DCTN1 gene were detected in one apparently sporadic case of ALS (T1249I), one individual with familial ALS (M571T), two patients with familial ALS, and two unaffected relatives in the same kindred (R785W). The allelic variants of the DCTN1 gene may represent a previously unknown genomic risk factor for ALS.
作者报告了对250例肌萎缩侧索硬化症（ALS）患者和150名无关对照受试者的动力蛋白激活蛋白（DCTN1）的p150亚基和胞质动力蛋白重链（DNCHC1）基因进行突变筛查。在1例明显散发的ALS病例（T1249I）、1例家族性ALS患者（M571T）、2例家族性ALS患者以及同一亲属关系中的2名未受影响的亲属（R785W）中检测到DCTN1基因的杂合错义突变。DCTN1基因的等位基因变异可能代表了一种先前未知的ALS基因组风险因素。
Zotero 插件