title: The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association.
abstract: Sjögren-Larsson Syndrome (SLS) is characterized by congenital ichthyosis, spastic dior tetraplegia and mental retardation. It is an autosomal recessive trait that is frequent in the northern part of Sweden. Based on linkage analysis and allelic association, the disorder has now been mapped to chromosome 17. Meiotic recombinations suggest that the gene is flanked by D17S805 on the centromeric and D17S783, D17S959, D17S842 and D17S925 on the telomeric side. These markers map to the same location in reference pedigrees. Strong allelic association (chi-square 60.28, p < 0.0003) to D17S805 suggests that the mutation is located close to this marker.
authors.affiliation: Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Pigg
authors.forename: S
authors.initials: S
authors.lastname: Jagell
authors.forename: A
authors.initials: A
authors.lastname: Sillén
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: K H
authors.initials: KH
authors.lastname: Gustavson
authors.forename: C
authors.initials: C
authors.lastname: Wadelius
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002886:Chromosomes, Human, Pair 17; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D008540:Meiosis; D010375:Pedigree; D011995:Recombination, Genetic; D016111:Sjogren-Larsson Syndrome / Q000235:genetics*