Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q

Caroline Paternotte, Doda Rudnicki, Cécile Fizames, Claire Sophie Davoine, Delphine Mavel, Alexandra Dürr, Delphine Samson, Catherine Marquette, Delphine Muselet, Nathalie Vega-Czarny, Nathalie Drouot, Thomas Voit, Bertrand Fontaine, Gabor Gyapay, Georg Auburger, Jean Weissenbach, Jamilé Hazan

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)1216-1227
Number of pages12
JournalGenome research
Volume8
Issue number11
DOIs
StatePublished - Jan 1 1998

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Paternotte, C., Rudnicki, D., Fizames, C., Davoine, C. S., Mavel, D., Dürr, A., Samson, D., Marquette, C., Muselet, D., Vega-Czarny, N., Drouot, N., Voit, T., Fontaine, B., Gyapay, G., Auburger, G., Weissenbach, J., & Hazan, J. (1998). Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q. Genome research, 8(11), 1216-1227. https://doi.org/10.1101/gr.8.11.1216