title: A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2.
abstract: Familial amyotrophic lateral sclerosis (FALS) affects 5%-10% of cases of amyotrophic lateral sclerosis (ALS) and is inherited as an autosomal dominant condition with incomplete penetrance. One-fifth of these cases of FALS are associated with mutations in copper/zinc-dependent superoxide dismutase (SOD1), but the gene defect in the remaining 80% of familial cases is, as yet, unknown. We have carried out a preliminary genome screen, using a U.K. resource of families lacking SOD1 mutations, to identify other potential disease loci and have identified a putative locus on chromosome 16q12.1-q12.2. The region associated with disease was further refined in the major family that contributed to this result and was localized to D16S409-D16S3032, a 14.74-cM genetic interval that corresponds to a physical distance of 6.6 Mb, which coincides with a region independently identified by two further research groups in the United States and the United Kingdom.
authors.affiliation: Department of Neuromuscular Diseases, Division of Neuroscience and Psychological Medicine, Faculty of Medicine, Imperial College London, Charing Cross Hospital, London, United Kingdom.
authors.forename: Halah
authors.initials: H
authors.lastname: Abalkhail
authors.forename: John
authors.initials: J
authors.lastname: Mitchell
authors.forename: James
authors.initials: J
authors.lastname: Habgood
authors.forename: Richard
authors.initials: R
authors.lastname: Orrell
authors.forename: Jacqueline
authors.initials: J
authors.lastname: de Belleroche
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1; D006113:United Kingdom
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1