Department of Neurology, The Second Hospital of Hebei Medical University, West Heping Road 215, Shijiazhuang, Hebei, 050000, P. R. China.
Department of Neurology, Binzhou Medical University Hospital, Binzhou, Shandong, 256603, P. R. China.
J Integr Neurosci. 2020 Sep 30;19(3):495-499. doi: 10.31083/j.jin.2020.03.131.
This paper describes the genetic etiology of sporadic amyotrophic lateral sclerosis in a single population. Polymerase chain reaction-restriction fragment length polymorphism and DNA sample sequencing of 3 common gene variants (C282Y and H63D and S65C) were performed on 10 randomly selected samples of H63D gene variant (124 patients with sporadic amyotrophic lateral sclerosis) and 10 wild types of H63D samples (210 controls). The C282Y and S65C gene variant were absent. There were 24 cases (7.18%) with H63D heterozygous variants, including 16 cases (13%) in the sporadic amyotrophic lateral sclerosis group and 8 cases (4%) in the healthy control group. The polymorphism frequency of the H63D gene variant in the sporadic amyotrophic lateral sclerosis group was significantly different than that in the control group ( < 0.05), and the difference at allele level, which is still more significant ( < 0.05). H63D gene variant could be a risk factor for sporadic amyotrophic lateral sclerosis in a single population. The results showed gene variants play a role in the occurrence of sporadic amyotrophic lateral sclerosis, but its effect should be carefully estimated.
本文描述了单一人群中散发性肌萎缩侧索硬化症的遗传病因。对 10 个随机选择的 H63D 基因突变（124 例散发性肌萎缩侧索硬化症患者）和 10 个 H63D 野生型样本（210 例对照）进行了 3 种常见基因变异（C282Y 和 H63D 和 S65C）的聚合酶链反应-限制片段长度多态性和 DNA 样本测序。C282Y 和 S65C 基因突变不存在。有 24 例（7.18%）为 H63D 杂合变体，其中散发性肌萎缩侧索硬化症组 16 例（13%），健康对照组 8 例（4%）。散发性肌萎缩侧索硬化症组 H63D 基因突变的多态性频率与对照组明显不同（<0.05），等位基因水平的差异更为显著（<0.05）。H63D 基因突变可能是单一人群散发性肌萎缩侧索硬化症的危险因素。结果表明基因变异在散发性肌萎缩侧索硬化症的发生中起作用，但应谨慎评估其作用。
