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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.

SUBMITTER: Paternotte C 

PROVIDER: S-EPMC310792 | biostudies-literature | 1998 Nov

REPOSITORIES: biostudies-literature

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

Paternotte C C   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  

Genome research 19981101 11

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,  ...[more]

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