Article Text
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.
- ALS, amyotrophic lateral sclerosis
- FALS, familial amyotrophic lateral sclerosis
- PCR, polymerase chain reaction
- SNP, single nucleotide polymorphism
- SOD1, Cu/Zn superoxide dismutase
- amyotrophic lateral sclerosis
- SOD1
- founder mutation/effect
- haplotype
- mutational analysis
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Footnotes
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Competing interest: none declared