A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree
| Autor: | Collette K. Hand, Evelyn B. Skehan, Manal M. A. Abdulrahim, Nollaig A. Parfrey |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Genotype Genetic Linkage Locus Locus (genetics) Genome-wide search Biology Cellular and Molecular Neuroscience RLS Genetic linkage Restless Legs Syndrome mental disorders Genetics medicine Humans Genetic Predisposition to Disease Restless legs syndrome Association mapping Movement disorder Genetics (clinical) Haplotype Chromosome Mapping Chromosome Middle Aged medicine.disease Human genetics Pedigree Haplotypes Microsatellite Lod Score Chromosomes Human Pair 19 Linkage analysis Microsatellite Repeats |
| Zdroj: | neurogenetics. 13:125-132 |
| ISSN: | 1364-6753 1364-6745 |
| DOI: | 10.1007/s10048-012-0317-x |
| Popis: | Restless legs syndrome (RLS) is a common, sleep-related movement disorder. The symptoms follow a circadian pattern, worsening in the evening or night, leading to sleep disruption and daytime somnolence. Familial forms of RLS have been described and usually display an autosomal dominant pattern of inheritance. To date, linkage analysis has identified nine RLS loci, but no specific causative gene has been reported. Association mapping has highlighted a further four genomic areas of interest. We have conducted a genome-wide linkage analysis in an Irish autosomal dominant RLS pedigree with 11 affected members. Significant linkage was found on chromosome 19p for a series of microsatellite markers, with a maximum two-point LOD score of 3.59 at θ = 0.0 for marker D19S878. Recombination events, identified by haplotype analysis, define a genetic region of 6.57 cM on chromosome 19p13.3, corresponding to an interval of 2.5 Mb. This study provides evidence of a novel RLS locus and provides further evidence that RLS is a genetically heterogenous disorder. |
| Databáze: | OpenAIRE |
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