Quality Assessment of Whole Genome Mapping Data in the Refined Familial Spastic Paraplegia Interval on Chromosome 14q
- Caroline Paternotte1,
- Doda Rudnicki2,
- Cécile Fizames4,
- Claire-Sophie Davoine5,
- Delphine Mavel1,
- Alexandra Dürr6,7,
- Delphine Samson4,
- Catherine Marquette1,
- Delphine Muselet4,
- Nathalie Vega-Czarny4,
- Nathalie Drouot4,
- Thomas Voit3,
- Bertrand Fontaine5,7,
- Gabor Gyapay4,
- Georg Auburger2,
- Jean Weissenbach4, and
- Jamilé Hazan1,8
- 1URA CNRS 1922, Généthon, 91000 Evry, France; 2Department of Neurology, and 3Department of Pediatrics, University Hospital, 40001 Düsseldorf, Germany; 4Centre National de Séquençage, 91000 Evry, France; 5U134 and 6U289, Hôpital de la Salpêtrière, 75013, Paris, France; 7Fédération de Neurologie, Hôpital de la Salpêtrière, 75013, Paris, France
Abstract
Autosomal dominant familial spastic paraplegia (AD-FSP) is a genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of the lower limbs. Three loci on chromosome 14q (SPG3), 2p (SPG4), and 15q (SPG6) were shown to be responsible for AD-FSP. Analysis of recombination events in three SPG3-linked families allowed us to narrow the critical interval from 9 to 5 cM. An ∼5-Mb YAC contig comprising 32 clones and 90 STSs was built from D14S301 to D14S991, encompassing this region of 14q21. Fifty-six ESTs assigned previously to this region with radiation hybrid (RH) panels Genebridge 4 and G3 were precisely localized on the YAC contig. The 90 STSs positioned on the contig were tested on the TNG RH panel to compare our YAC-based map with an RH map at a high level of resolution. Comparison between our map and the whole genome mapping data on this interval of chromosome 14q is discussed.
Footnotes
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↵8 Corresponding author.
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E-MAIL jamile{at}genethon.fr; FAX 33-1-60-770951.
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- Received August 6, 1998.
- Accepted October 16, 1998.
- Cold Spring Harbor Laboratory Press
