1. Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect
- Author
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Stephan Niemann, M Gleichmann, Reinhard Dengler, S Vielhaber, Thomas F. Meyer, H Joos, Ulrich Müller, and U Reuner
- Subjects
Adult ,Male ,Genotype ,animal diseases ,DNA Mutational Analysis ,SOD1 ,Short Report ,Locus (genetics) ,Biology ,Exon ,Superoxide Dismutase-1 ,Germany ,Humans ,Missense mutation ,Allele ,Genotyping ,Aged ,Genetics ,Superoxide Dismutase ,Amyotrophic Lateral Sclerosis ,Haplotype ,nutritional and metabolic diseases ,Exons ,Sequence Analysis, DNA ,Middle Aged ,nervous system diseases ,Psychiatry and Mental health ,Female ,Surgery ,Neurology (clinical) ,Founder effect - Abstract
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 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.
- Published
- 2004