Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q |
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Authors: | Alex Desautels Gustavo Turecki Jacques Montplaisir Adolfo Sequeira Andrei Verner and Guy A Rouleau |
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Affiliation: | Centre d'étude du sommeil, H?pital du Sacré-Coeur de Montréal and Centre de recherche en sciences neurologiques, Université de Montréal, Montréal, Québec, Canada. |
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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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