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PMID: 10677333 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

American journal of human genetics ·Vol. 66 ·No. 2 ·2000-02-00 ·Pages 728-32

Reid E, Dearlove AM, Osborn O, Rogers MT, Rubinsztein DC

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.

MeSH Terms
Adolescent Adult Age of Onset Child Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 19/genetics Female Genes, Dominant/genetics Genetic Heterogeneity Haplotypes/genetics Humans Lod Score Male Microsatellite Repeats/genetics Paraplegia/epidemiology,genetics Pedigree Penetrance
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Reid E
Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
Dearlove A M
Osborn O
Rogers M T
Rubinsztein D C
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/302783
Published
2000-02-00
Pages
728-32
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1288126
Subset
IM
External Links
PubMed source DOI: 10.1086/302783 PMC Full Text View journal details
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