TY - JOUR
T1 - Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q
AU - Paternotte, Caroline
AU - Rudnicki, Doda
AU - Fizames, Cécile
AU - Davoine, Claire Sophie
AU - Mavel, Delphine
AU - Dürr, Alexandra
AU - Samson, Delphine
AU - Marquette, Catherine
AU - Muselet, Delphine
AU - Vega-Czarny, Nathalie
AU - Drouot, Nathalie
AU - Voit, Thomas
AU - Fontaine, Bertrand
AU - Gyapay, Gabor
AU - Auburger, Georg
AU - Weissenbach, Jean
AU - Hazan, Jamilé
PY - 1998
Y1 - 1998
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=17444432925&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=17444432925&partnerID=8YFLogxK
U2 - 10.1101/gr.8.11.1216
DO - 10.1101/gr.8.11.1216
M3 - Article
C2 - 9847083
AN - SCOPUS:17444432925
SN - 1088-9051
VL - 8
SP - 1216
EP - 1227
JO - Genome research
JF - Genome research
IS - 11
ER -