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  • Title: Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q.
    Author: Desautels A, Turecki G, Montplaisir J, Sequeira A, Verner A, Rouleau GA.
    Journal: Am J Hum Genet; 2001 Dec; 69(6):1266-70. PubMed ID: 11704926.
    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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