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

• Published in: Genome research Vol. 8; no. 11; pp. 1216 - 1227
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Cold Spring Harbor Laboratory Press 01.11.1998
• Subjects: Chromosome Mapping; Chromosomes, Human, Pair 14 - genetics; Contig Mapping; Expressed Sequence Tags; Family Health; Female; Genome, Human; Humans; Hybrid Cells - radiation effects; Letter; Male; Microsatellite Repeats; Pedigree; Sequence Tagged Sites; Spastic Paraplegia, Hereditary - genetics; Transcription, Genetic
• ISSN: 1088-9051; 1549-5469
• DOI: 10.1101/gr.8.11.1216

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.