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 he terogeneous neurodegenerative disorder characterized by progressive spastic ity 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 recombinat ion events in three SPG3-linked families allowed us to narrow the critical interval from 9 to 5 cM. An similar to 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 hy brid (RH) panels Genebridge 4 and G3 were precisely localized on the YAC co ntig. 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 interv al of chromosome 14q is discussed.