德国家族性ALS:奠基者效应引发超氧化物歧化酶(SOD1)突变的R115G基因起源

• 作 者: Niemann S. Joos H. T. 李源
• 机 构: Institut für Humangenetik, Justus Liebig Universitt,Schlangenzahl 14, D-5392 Giessen, Germany Dr.
• 出 处: 世界核心医学期刊文摘(神经病学分册)
• 发表日期: 2005年01期
• 关键词: 奠基者效应 超氧化物歧化酶 族性 基因突变 单倍体 外显子 标记技术 编码区 基因序列 基因型

Mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1) account for approximately 20% of patients with familial amyotrophic lateral sclerosis (FALS). In this study, sequence analysis of exons 1 5 of SOD1 in a large German cohort with FALS was performed. Among 75 affected patients, who were not obviously related probands with a positive family history, nine had missense mutations in SOD1. Four of the nine probands carry the sameR115G mutation in exon 4 of the SOD1 gene. Genotyping with markers from the SOD1 locus revealed a common haplotype and shared allelic characteristics in these patients. These findings suggest that the R115G mutation in the German population originates from a common founder.

Mutations in the gene encoding Cu / Zn superoxide dismutase (SOD1) account for approximately 20% of patients with familial amyotrophic lateral sclerosis (FALS). In this study, sequence analysis of exons 1 5 of SOD1 in a large German cohort with FALS was performed Four of the nine probands carry the same R115G mutation in exon 4 of the SOD1 gene. Genotyping with markers from the SOD1 locus revealed a common haplotype and shared allelic characteristics in these patients. These findings suggest that the R115G mutation in the German population originates from a common founder.