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      Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q.

      American Journal of Human Genetics

      Canada, Chromosome Mapping, Chromosomes, Human, Pair 12, genetics, Female, France, ethnology, Gene Frequency, Genes, Dominant, Genes, Recessive, Genetic Predisposition to Disease, Haplotypes, Humans, Lod Score, Male, Microsatellite Repeats, Models, Genetic, Pedigree, Penetrance, Restless Legs Syndrome

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          Abstract

          Restless legs syndrome (RLS) is a neurological disorder characterized by leg paresthesia associated with an irresistible urge to move that often interferes with nocturnal sleep, leading to chronic sleep deprivation. To map genes that may play a role in the vulnerability to RLS, a genomewide scan was conducted in a large French-Canadian family. Significant linkage was established on chromosome 12q, for a series of adjacent microsatellite markers with a maximum two-point LOD score of 3.42 (recombination fraction.05; P=6x10(-4); autosomal recessive mode of inheritance), whereas multipoint linkage calculations yielded a LOD score of 3.59. Haplotype analysis refined the genetic interval, positioning the RLS-predisposing gene in a 14.71-cM region between D12S1044 and D12S78. These findings represent the first mapping of a locus conferring susceptibility to RLS.

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          Author and article information

          Journal
          11704926
          1235538
          10.1086/324649

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