Archives of neurology · 2003
Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.
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Hand Collette K, Devon Rebecca S, Gros-Louis Francois, Rochefort Daniel, Khoris Jawad, Meininger Vincent, Bouchard Jean-Pierre, Camu William, Hayden Michael R, Rouleau Guy A
Аннотация
BACKGROUND: Mutations in the ALS2 gene cause juvenile-onset autosomal recessive amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia.
OBJECTIVE: To assess the role of ALS2 among more common forms of ALS.
METHODS: DNA from 95 unrelated familial, 95 unrelated sporadic, and 11 early-onset ALS patients was screened for mutations in ALS2 by denaturing high-performance liquid chromatography and direct sequencing of polymerase chain reaction-amplified fragments. Each variant identified was also analyzed among control subjects. All 34 exons of ALS2 plus the 5' and 3' untranslated region were screened.
RESULTS: We detected 23 novel sequence variants; however, none is disease-associated.
CONCLUSION: Mutations of ALS2 are not a common cause of ALS.
OBJECTIVE: To assess the role of ALS2 among more common forms of ALS.
METHODS: DNA from 95 unrelated familial, 95 unrelated sporadic, and 11 early-onset ALS patients was screened for mutations in ALS2 by denaturing high-performance liquid chromatography and direct sequencing of polymerase chain reaction-amplified fragments. Each variant identified was also analyzed among control subjects. All 34 exons of ALS2 plus the 5' and 3' untranslated region were screened.
RESULTS: We detected 23 novel sequence variants; however, none is disease-associated.
CONCLUSION: Mutations of ALS2 are not a common cause of ALS.
Предметные рубрики MeSH
3' Untranslated Regions5' Untranslated RegionsAmyotrophic Lateral SclerosisCase-Control StudiesChromatography, High Pressure LiquidCohort StudiesDNA Mutational AnalysisExonsGenetic TestingGenetic VariationGuanine Nucleotide Exchange FactorsHumansMutationReverse Transcriptase Polymerase Chain Reaction