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A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.

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.

SUBMITTER: Reid E 

PROVIDER: S-EPMC1288126 | biostudies-literature | 2000 Feb

REPOSITORIES: biostudies-literature

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A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.

Reid E E   Dearlove A M AM   Osborn O O   Rogers M T MT   Rubinsztein D C DC  

American journal of human genetics 20000201 2

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  ...[more]

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