A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13 - PubMed (original) (raw)

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

E Reid et al. Am J Hum Genet. 2000 Feb.

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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Figures

Figure 1

Family tree of family 28 with ADPHSP, showing haplotypes for markers around the SPG12 region. The marker order, from top to bottom, is D19S414, D19S868, D19S416, D19S425, D19S220, D19S223, D19S420, D19S918, D19S412, D19S545, and D19S902. For clarity, noncontributory haplotypes are represented by a uniform hatched shaded pattern. Recombination events in affected individuals narrow the SPG12 critical region to an ∼16-cM region between D19S868 and D19S902 (see the Center for Medical Genetics, Marshfield Medical Research Foundation Web site). For confidentiality, the sex of the subjects has been concealed. For affected patients, age at onset of symptoms is shown below the pedigree symbol; for clinically unaffected or possibly affected subjects, age at examination is shown below the pedigree symbol. Blackened symbols denote affected individuals; ? = possibly affected; N = clinically normal; + = DNA available.

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References

Electronic-Database Information

1. 1. Center for Medical Genetics, Marshfield Medical Research Foundation, http://www.marshmed.org/genetics (for marker locations)
2. 1. GeneMap ’99, http://www.ncbi.nlm.nih.gov/genemap/ (for radiation-hybrid–mapping data on candidate genes)
3. 1. Genome Database, The, http://www.gdb.org (for cytogenetic locations of SPG12 markers)
4. 1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim (for SPG3 [MIM 182600], SPG4 [MIM 182601], SPG6 [MIM 600363], SPG8 [MIM 603563], and SPG10 [MIM 604187])
5. 1. UK Human Genome Mapping Project Resource Centre, http://www.hgmp.mrc.ac.uk (for GLUE interface and other linkage utilities)

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