Back to Search
Start Over
Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect
- Source :
- Journal of Neurology, Neurosurgery & Psychiatry. 75:1186-1188
- Publication Year :
- 2004
- Publisher :
- BMJ, 2004.
-
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.
- 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
Subjects
Details
- ISSN :
- 00223050
- Volume :
- 75
- Database :
- OpenAIRE
- Journal :
- Journal of Neurology, Neurosurgery & Psychiatry
- Accession number :
- edsair.doi.dedup.....78351f5d6e0a42a00fc84d57472301a0