A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13 |
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Authors: | Reid E Dearlove A M Osborn O Rogers M T Rubinsztein D C |
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Institution: | Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom. |
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Abstract: | 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. |
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