A novel locus for X-linked congenital cataract on Xq24

PURPOSE: This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype. METHODS: 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 mic...

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Autores principales: Craig, Jamie E., Friend, Kathryn L., Gecz, Jozef, Rattray, Kate M, Troski, Mark, Mackey, David A., Burdon, Kathryn P.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2324122/
https://www.ncbi.nlm.nih.gov/pubmed/18431456
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author Craig, Jamie E.
Friend, Kathryn L.
Gecz, Jozef
Rattray, Kate M
Troski, Mark
Mackey, David A.
Burdon, Kathryn P.
author_facet Craig, Jamie E.
Friend, Kathryn L.
Gecz, Jozef
Rattray, Kate M
Troski, Mark
Mackey, David A.
Burdon, Kathryn P.
author_sort Craig, Jamie E.
collection PubMed
description PURPOSE: This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype. METHODS: 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. RESULTS: 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. CONCLUSIONS: A gene causing this novel congenital cataract phenotype is located on the long arm of the X chromosome.
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spelling pubmed-23241222008-04-22 A novel locus for X-linked congenital cataract on Xq24 Craig, Jamie E. Friend, Kathryn L. Gecz, Jozef Rattray, Kate M Troski, Mark Mackey, David A. Burdon, Kathryn P. Mol Vis Research Article PURPOSE: This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype. METHODS: 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. RESULTS: 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. CONCLUSIONS: A gene causing this novel congenital cataract phenotype is located on the long arm of the X chromosome. Molecular Vision 2008-04-18 /pmc/articles/PMC2324122/ /pubmed/18431456 Text en http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Craig, Jamie E.
Friend, Kathryn L.
Gecz, Jozef
Rattray, Kate M
Troski, Mark
Mackey, David A.
Burdon, Kathryn P.
A novel locus for X-linked congenital cataract on Xq24
title A novel locus for X-linked congenital cataract on Xq24
title_full A novel locus for X-linked congenital cataract on Xq24
title_fullStr A novel locus for X-linked congenital cataract on Xq24
title_full_unstemmed A novel locus for X-linked congenital cataract on Xq24
title_short A novel locus for X-linked congenital cataract on Xq24
title_sort novel locus for x-linked congenital cataract on xq24
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2324122/
https://www.ncbi.nlm.nih.gov/pubmed/18431456
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