title: Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.
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.
authors.affiliation: URA CNRS 1922, Généthon, 91000 Evry, France.
authors.forename: C
authors.initials: C
authors.lastname: Paternotte
authors.forename: D
authors.initials: D
authors.lastname: Rudnicki
authors.forename: C
authors.initials: C
authors.lastname: Fizames
authors.forename: C S
authors.initials: CS
authors.lastname: Davoine
authors.forename: D
authors.initials: D
authors.lastname: Mavel
authors.forename: A
authors.initials: A
authors.lastname: Dürr
authors.forename: D
authors.initials: D
authors.lastname: Samson
authors.forename: C
authors.initials: C
authors.lastname: Marquette
authors.forename: D
authors.initials: D
authors.lastname: Muselet
authors.forename: N
authors.initials: N
authors.lastname: Vega-Czarny
authors.forename: N
authors.initials: N
authors.lastname: Drouot
authors.forename: T
authors.initials: T
authors.lastname: Voit
authors.forename: B
authors.initials: B
authors.lastname: Fontaine
authors.forename: G
authors.initials: G
authors.lastname: Gyapay
authors.forename: G
authors.initials: G
authors.lastname: Auburger
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: J
authors.initials: J
authors.lastname: Hazan
mesh_terms: D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D020451:Contig Mapping; D020224:Expressed Sequence Tags; D005192:Family Health; D005260:Female; D015894:Genome, Human; D006801:Humans; D006822:Hybrid Cells / Q000528:radiation effects; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D016324:Sequence Tagged Sites; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D014158:Transcription, Genetic