Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.
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.
Paternotte
C
C
URA CNRS 1922, Généthon, 91000 Evry, France.
Rudnicki
D
D
Fizames
C
C
Davoine
C S
CS
Mavel
D
D
Dürr
A
A
Samson
D
D
Marquette
C
C
Muselet
D
D
Vega-Czarny
N
N
Drouot
N
N
Voit
T
T
Fontaine
B
B
Gyapay
G
G
Auburger
G
G
Weissenbach
J
J
Hazan
J
J
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