A novel locus for X-linked congenital cataract on Xq24
Identifieur interne : 002142 ( Ncbi/Curation ); précédent : 002141; suivant : 002143A novel locus for X-linked congenital cataract on Xq24
Auteurs : Jamie E. Craig [Australie] ; Kathryn L. Friend [Australie] ; Jozef Gecz [Australie] ; Kate M. Rattray [Australie] ; Mark Troski [Australie] ; David A. Mackey [Australie] ; Kathryn P. Burdon [Australie]Source :
- Molecular Vision [ 1090-0535 ] ; 2008.
Abstract
This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype.
A large three-generation family with lamellar and nuclear cataract in five affected males was identified. Linkage analysis was conducted by genotyping X-chromosome specific microsatellite markers at an average spacing of 5 cM. Analysis was conducted using the LINKAGE package under an X-linked recessive model.
A linkage was detected on Xq24 with the maximum LOD score of 2.53 at θ=0 for DXS1001. The minimal region was defined as 11.5 Mb between markers DXS8055 and DXS8009 through critical recombination events in multiple individuals.
A gene causing this novel congenital cataract phenotype is located on the long arm of the X chromosome.
Url:
PubMed: 18431456
PubMed Central: 2324122
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Craig</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Ophthalmology, Flinders University, Adelaide, SA, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Ophthalmology, Flinders University, Adelaide, SA</wicri:regionArea><wicri:noRegion>SA</wicri:noRegion></affiliation></author><author><name sortKey="Friend, Kathryn L" sort="Friend, Kathryn L" uniqKey="Friend K" first="Kathryn L." last="Friend">Kathryn L. 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Burdon</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Ophthalmology, Flinders University, Adelaide, SA, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Ophthalmology, Flinders University, Adelaide, SA</wicri:regionArea><wicri:noRegion>SA</wicri:noRegion></affiliation></author></analytic><series><title level="j">Molecular Vision</title><idno type="eISSN">1090-0535</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Purpose</title><p>This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype.</p></sec><sec sec-type="methods"><title>Methods</title><p>A large three-generation family with lamellar and nuclear cataract in five affected males was identified. Linkage analysis was conducted by genotyping X-chromosome specific microsatellite markers at an average spacing of 5 cM. Analysis was conducted using the LINKAGE package under an X-linked recessive model.</p></sec><sec><title>Results</title><p>A linkage was detected on Xq24 with the maximum LOD score of 2.53 at θ=0 for DXS1001. The minimal region was defined as 11.5 Mb between markers DXS8055 and DXS8009 through critical recombination events in multiple individuals.</p></sec><sec><title>Conclusions</title><p>A gene causing this novel congenital cataract phenotype is located on the long arm of the X chromosome.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct></listBibl></div1></back></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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