A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.
Genetic loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have been mapped to chromosomes 2p, 8q, 12q, 14q, and 15q. We undertook a genomewide linkage screen of a large family with ADPHSP, for which linkage at all previously identified ADPHSP loci was excluded. Analysis of markers on chromosome 19q gave a peak pairwise LOD score of 3.72 at D19S420, allowing assignment of a novel ADPHSP locus (which we have termed "SPG12") to this region. Haplotype construction and analysis of recombination events narrowed the SPG12 locus to a 16.1-cM region between markers D19S868 and D19S902.
Reid
E
E
Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
Dearlove
A M
AM
Osborn
O
O
Rogers
M T
MT
Rubinsztein
D C
DC
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D018740:Genetic Heterogeneity; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010264:Paraplegia / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance