| Literature DB >> 9847083 |
C Paternotte1, D Rudnicki, C Fizames, C S Davoine, D Mavel, A Dürr, D Samson, C Marquette, D Muselet, N Vega-Czarny, N Drouot, T Voit, B Fontaine, G Gyapay, G Auburger, J Weissenbach, J Hazan.
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 approximately 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.Entities:
Mesh：
Year: 1998 PMID： 9847083 PMCID： PMC310792 DOI： 10.1101/gr.8.11.1216
Source DB: PubMed Journal: Genome Res ISSN： 1088-9051 Impact factor: 9.043