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. Meyer T. 李源 

作者机构：Institut für Humangenetik Justus Liebig UniversittSchlangenzahl 14 D-5392 Giessen Germany Dr. 

出 版 物：《世界核心医学期刊文摘（神经病学分册）》 (Digest of the World Core Medical Journals:Clinical Neurology)

年 卷 期：2005年第1卷第1期

页      面：22-23页

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

主　　题：ALS R115G基因 SOD1 奠基者效应 基因突变 族性 家族病史 编码区 基因位点 标记技术 

摘      要：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.