Detailed genetic and physical mapping in the Sjögren-Larsson syndrome gene region in 17p11.2.
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterised by mental retardation, spasticity, and ichthyosis. In 1994, SLS was linked to chromosome 17 and the gene causing the disorder was recently identified as fatty aldehyde dehydrogenase (FALDH) located in 17p11.2. In this paper we present a detailed genetic and physical map of the region surrounding the SLS/FALDH locus, produced by using new microsatellite markers analysed on the extensive Swedish family material, a radiation hybrid panel, and yeast artificial chromosomes (YACs).
Sillén
A
A
Department of Genetics and Pathology, University Hospital, Uppsala, Sweden.
Alderborn
A
A
Pigg
M
M
Jagell
S
S
Wadelius
C
C
D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002886:Chromosomes, Human, Pair 17; D003001:Cloning, Molecular; D005260:Female; D006239:Haplotypes; D006801:Humans; D006822:Hybrid Cells; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D016111:Sjogren-Larsson Syndrome / Q000235:genetics*