The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes
Identifieur interne : 002545 ( Istex/Corpus ); précédent : 002544; suivant : 002546The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes
Auteurs : J D Mckay ; B. Patterson ; J E Craig ; I M Russell-Eggitt ; M G Wirth ; K P Burdon ; A W Hewitt ; A C Cohn ; Y. Kerdraon ; D A MackeySource :
- British Journal of Ophthalmology [ 0007-1161 ] ; 2005-07.
English descriptors
- KwdEn :
- Australian island state, Autosomal, British family, Candidate gene pax7, Cataract, Cataract loci, Chromosome, Coding region, Congenital, Congenital cataract, Congenital glaucoma, Critical region, Critical regions, Danish pedigrees, Gene, Genet, Genetic analyser, Genetic maps, Genome, Glaucoma, Haplotype, Human chromosome, Human genome project, Informative recombinants, Large danish pedigree, Linkage, Linkage analysis, Linkage analysis results, Location score, Locus, Missense mutation, Mutation, Physical distance, Physical position, Polymerase chain reaction, Royal hospital, Royal victorian, Same gene, Significant linkage, Single nucleotide polymorphism, Tasmanian, Tasmanian family, Tasmanian pedigree, Telomere, Telomeric, Telomeric region, Third report.
- Teeft :
- Australian island state, Autosomal, British family, Candidate gene pax7, Cataract, Cataract loci, Chromosome, Coding region, Congenital, Congenital cataract, Congenital glaucoma, Critical region, Critical regions, Danish pedigrees, Gene, Genet, Genetic analyser, Genetic maps, Genome, Glaucoma, Haplotype, Human chromosome, Human genome project, Informative recombinants, Large danish pedigree, Linkage, Linkage analysis, Linkage analysis results, Location score, Locus, Missense mutation, Mutation, Physical distance, Physical position, Polymerase chain reaction, Royal hospital, Royal victorian, Same gene, Significant linkage, Single nucleotide polymorphism, Tasmanian, Tasmanian family, Tasmanian pedigree, Telomere, Telomeric, Telomeric region, Third report.
Abstract
Aims: Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract. Linkage analysis was used to map the genetic locus in a six generation Australian family presenting with total congenital cataract. Methods: Microsatellite markers located across all known autosomal dominant congenital cataract loci were genotyped in all recruited family members of the Tasmanian family. Both two point and multipoint linkage analysis were used to assess each locus under an autosomal dominant model. Results: Significant linkage was detected at the telomere of the p arm of chromosome 1, with a maximum two point LOD of 4.21 at marker D1S507, a maximum multipoint exact LOD of 5.44, and an estimated location score of 5.61 at marker D1S507. Haplotype analysis places the gene inside a critical region between D1S228 and D1S199, a distance of approximately 6 megabases. The candidate gene PAX7 residing within the critical interval was excluded by direct sequencing in affected individuals. Conclusion: This is the third report of congenital cataract linkage to 1ptel. The critical region as defined by the shared haplotype in this family is clearly centromeric from the Volkmann cataract locus identified through study of a Danish family, indicating that two genes causing autosomal dominant congenital cataract map to the telomeric region of chromosome 1p.
Url:
DOI: 10.1136/bjo.2004.058495
Links to Exploration step
ISTEX:C94508D8E25138548AC99C5C445270975305210FLe document en format XML
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Patterson</name><affiliation><mods:affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</mods:affiliation></affiliation></author><author><name sortKey="Craig, J E" sort="Craig, J E" uniqKey="Craig J" first="J E" last="Craig">J E Craig</name><affiliation><mods:affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</mods:affiliation></affiliation><affiliation><mods:affiliation>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Ophthalmology, Flinders University, Flinders Drive, Bedford Park, South Australia</mods:affiliation></affiliation></author><author><name sortKey="Russell Eggitt, I M" sort="Russell Eggitt, I M" uniqKey="Russell Eggitt I" first="I M" last="Russell-Eggitt">I M Russell-Eggitt</name><affiliation><mods:affiliation>Great Ormond St Hospital for Children, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Wirth, M G" sort="Wirth, M G" uniqKey="Wirth M" first="M G" last="Wirth">M G Wirth</name><affiliation><mods:affiliation>Department of Ophthalmology, Royal Children’s Hospital, Melbourne, Australia</mods:affiliation></affiliation></author><author><name sortKey="Burdon, K P" sort="Burdon, K P" uniqKey="Burdon K" first="K P" last="Burdon">K P Burdon</name><affiliation><mods:affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA</mods:affiliation></affiliation></author><author><name sortKey="Hewitt, A W" sort="Hewitt, A W" uniqKey="Hewitt A" first="A W" last="Hewitt">A W Hewitt</name><affiliation><mods:affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</mods:affiliation></affiliation></author><author><name sortKey="Cohn, A C" sort="Cohn, A C" uniqKey="Cohn A" first="A C" last="Cohn">A C Cohn</name><affiliation><mods:affiliation>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</mods:affiliation></affiliation></author><author><name sortKey="Kerdraon, Y" sort="Kerdraon, Y" uniqKey="Kerdraon Y" first="Y" last="Kerdraon">Y. 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Patterson</name><affiliation><mods:affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</mods:affiliation></affiliation></author><author><name sortKey="Craig, J E" sort="Craig, J E" uniqKey="Craig J" first="J E" last="Craig">J E Craig</name><affiliation><mods:affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</mods:affiliation></affiliation><affiliation><mods:affiliation>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Ophthalmology, Flinders University, Flinders Drive, Bedford Park, South Australia</mods:affiliation></affiliation></author><author><name sortKey="Russell Eggitt, I M" sort="Russell Eggitt, I M" uniqKey="Russell Eggitt I" first="I M" last="Russell-Eggitt">I M Russell-Eggitt</name><affiliation><mods:affiliation>Great Ormond St Hospital for Children, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Wirth, M G" sort="Wirth, M G" uniqKey="Wirth M" first="M G" last="Wirth">M G Wirth</name><affiliation><mods:affiliation>Department of Ophthalmology, Royal Children’s Hospital, Melbourne, Australia</mods:affiliation></affiliation></author><author><name sortKey="Burdon, K P" sort="Burdon, K P" uniqKey="Burdon K" first="K P" last="Burdon">K P Burdon</name><affiliation><mods:affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA</mods:affiliation></affiliation></author><author><name sortKey="Hewitt, A W" sort="Hewitt, A W" uniqKey="Hewitt A" first="A W" last="Hewitt">A W Hewitt</name><affiliation><mods:affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</mods:affiliation></affiliation></author><author><name sortKey="Cohn, A C" sort="Cohn, A C" uniqKey="Cohn A" first="A C" last="Cohn">A C Cohn</name><affiliation><mods:affiliation>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</mods:affiliation></affiliation></author><author><name sortKey="Kerdraon, Y" sort="Kerdraon, Y" uniqKey="Kerdraon Y" first="Y" last="Kerdraon">Y. Kerdraon</name><affiliation><mods:affiliation>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</mods:affiliation></affiliation></author><author><name sortKey="Mackey, D A" sort="Mackey, D A" uniqKey="Mackey D" first="D A" last="Mackey">D A Mackey</name><affiliation><mods:affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</mods:affiliation></affiliation><affiliation><mods:affiliation>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">British Journal of Ophthalmology</title><title level="j" type="abbrev">Br J Ophthalmol</title><idno type="ISSN">0007-1161</idno><idno type="eISSN">1468-2079</idno><imprint><publisher>BMJ Publishing Group Ltd.</publisher><pubPlace>BMA House, Tavistock Square, London, WC1H 9JR</pubPlace><date type="published" when="2005-07">2005-07</date><biblScope unit="volume">89</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="831">831</biblScope></imprint><idno type="ISSN">0007-1161</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0007-1161</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Australian island state</term><term>Autosomal</term><term>British family</term><term>Candidate gene pax7</term><term>Cataract</term><term>Cataract loci</term><term>Chromosome</term><term>Coding region</term><term>Congenital</term><term>Congenital cataract</term><term>Congenital glaucoma</term><term>Critical region</term><term>Critical regions</term><term>Danish pedigrees</term><term>Gene</term><term>Genet</term><term>Genetic analyser</term><term>Genetic maps</term><term>Genome</term><term>Glaucoma</term><term>Haplotype</term><term>Human chromosome</term><term>Human genome project</term><term>Informative recombinants</term><term>Large danish pedigree</term><term>Linkage</term><term>Linkage analysis</term><term>Linkage analysis results</term><term>Location score</term><term>Locus</term><term>Missense mutation</term><term>Mutation</term><term>Physical distance</term><term>Physical position</term><term>Polymerase chain reaction</term><term>Royal hospital</term><term>Royal victorian</term><term>Same gene</term><term>Significant linkage</term><term>Single nucleotide polymorphism</term><term>Tasmanian</term><term>Tasmanian family</term><term>Tasmanian pedigree</term><term>Telomere</term><term>Telomeric</term><term>Telomeric region</term><term>Third report</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Australian island state</term><term>Autosomal</term><term>British family</term><term>Candidate gene pax7</term><term>Cataract</term><term>Cataract loci</term><term>Chromosome</term><term>Coding region</term><term>Congenital</term><term>Congenital cataract</term><term>Congenital glaucoma</term><term>Critical region</term><term>Critical regions</term><term>Danish pedigrees</term><term>Gene</term><term>Genet</term><term>Genetic analyser</term><term>Genetic maps</term><term>Genome</term><term>Glaucoma</term><term>Haplotype</term><term>Human chromosome</term><term>Human genome project</term><term>Informative recombinants</term><term>Large danish pedigree</term><term>Linkage</term><term>Linkage analysis</term><term>Linkage analysis results</term><term>Location score</term><term>Locus</term><term>Missense mutation</term><term>Mutation</term><term>Physical distance</term><term>Physical position</term><term>Polymerase chain reaction</term><term>Royal hospital</term><term>Royal victorian</term><term>Same gene</term><term>Significant linkage</term><term>Single nucleotide polymorphism</term><term>Tasmanian</term><term>Tasmanian family</term><term>Tasmanian pedigree</term><term>Telomere</term><term>Telomeric</term><term>Telomeric region</term><term>Third report</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Aims: Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract. Linkage analysis was used to map the genetic locus in a six generation Australian family presenting with total congenital cataract. Methods: Microsatellite markers located across all known autosomal dominant congenital cataract loci were genotyped in all recruited family members of the Tasmanian family. Both two point and multipoint linkage analysis were used to assess each locus under an autosomal dominant model. Results: Significant linkage was detected at the telomere of the p arm of chromosome 1, with a maximum two point LOD of 4.21 at marker D1S507, a maximum multipoint exact LOD of 5.44, and an estimated location score of 5.61 at marker D1S507. Haplotype analysis places the gene inside a critical region between D1S228 and D1S199, a distance of approximately 6 megabases. The candidate gene PAX7 residing within the critical interval was excluded by direct sequencing in affected individuals. Conclusion: This is the third report of congenital cataract linkage to 1ptel. The critical region as defined by the shared haplotype in this family is clearly centromeric from the Volkmann cataract locus identified through study of a Danish family, indicating that two genes causing autosomal dominant congenital cataract map to the telomeric region of chromosome 1p.</div></front></TEI><istex><corpusName>bmj</corpusName><keywords><teeft><json:string>cataract</json:string><json:string>genet</json:string><json:string>autosomal</json:string><json:string>chromosome</json:string><json:string>tasmanian</json:string><json:string>congenital</json:string><json:string>mutation</json:string><json:string>congenital cataract</json:string><json:string>telomere</json:string><json:string>haplotype</json:string><json:string>genome</json:string><json:string>tasmanian family</json:string><json:string>critical region</json:string><json:string>significant linkage</json:string><json:string>linkage analysis</json:string><json:string>locus</json:string><json:string>british 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regions</json:string><json:string>danish pedigrees</json:string><json:string>human genome project</json:string><json:string>polymerase chain reaction</json:string><json:string>same gene</json:string><json:string>genetic analyser</json:string><json:string>candidate gene pax7</json:string><json:string>royal hospital</json:string></teeft></keywords><author><json:item><name>J D McKay</name><affiliations><json:string>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</json:string><json:string>Genome analysis team, International Agency for Research on Cancer, Lyons, France</json:string></affiliations></json:item><json:item><name>B Patterson</name><affiliations><json:string>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</json:string></affiliations></json:item><json:item><name>J E Craig</name><affiliations><json:string>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</json:string><json:string>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</json:string><json:string>Department of Ophthalmology, Flinders University, Flinders Drive, Bedford Park, South Australia</json:string></affiliations></json:item><json:item><name>I M Russell-Eggitt</name><affiliations><json:string>Great Ormond St Hospital for Children, London, UK</json:string></affiliations></json:item><json:item><name>M G Wirth</name><affiliations><json:string>Department of Ophthalmology, Royal Children’s Hospital, Melbourne, Australia</json:string></affiliations></json:item><json:item><name>K P Burdon</name><affiliations><json:string>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</json:string><json:string>Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA</json:string></affiliations></json:item><json:item><name>A W Hewitt</name><affiliations><json:string>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</json:string></affiliations></json:item><json:item><name>A C Cohn</name><affiliations><json:string>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</json:string></affiliations></json:item><json:item><name>Y Kerdraon</name><affiliations><json:string>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</json:string></affiliations></json:item><json:item><name>D A Mackey</name><affiliations><json:string>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</json:string><json:string>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>ADCC, autosomal dominant congenital cataract</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>PCR, polymerase chain reaction</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>SNP, single nucleotide polymorphism</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>congenital cataract</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>chromosome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>telomere</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>linkage</value></json:item></subject><arkIstex>ark:/67375/NVC-ZKLT05FS-B</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>other</json:string></originalGenre><abstract>Aims: Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract. Linkage analysis was used to map the genetic locus in a six generation Australian family presenting with total congenital cataract. Methods: Microsatellite markers located across all known autosomal dominant congenital cataract loci were genotyped in all recruited family members of the Tasmanian family. Both two point and multipoint linkage analysis were used to assess each locus under an autosomal dominant model. Results: Significant linkage was detected at the telomere of the p arm of chromosome 1, with a maximum two point LOD of 4.21 at marker D1S507, a maximum multipoint exact LOD of 5.44, and an estimated location score of 5.61 at marker D1S507. Haplotype analysis places the gene inside a critical region between D1S228 and D1S199, a distance of approximately 6 megabases. The candidate gene PAX7 residing within the critical interval was excluded by direct sequencing in affected individuals. Conclusion: This is the third report of congenital cataract linkage to 1ptel. The critical region as defined by the shared haplotype in this family is clearly centromeric from the Volkmann cataract locus identified through study of a Danish family, indicating that two genes causing autosomal dominant congenital cataract map to the telomeric region of chromosome 1p.</abstract><qualityIndicators><score>7.062</score><pdfWordCount>2410</pdfWordCount><pdfCharCount>16750</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>4</pdfPageCount><pdfPageSize>612 x 792 pts (letter)</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>221</abstractWordCount><abstractCharCount>1447</abstractCharCount><keywordCount>8</keywordCount></qualityIndicators><title>The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes</title><pmid><json:string>15965161</json:string></pmid><genre><json:string>other</json:string></genre><host><title>British Journal of 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abdomen</json:string></inist></categories><publicationDate>2005</publicationDate><copyrightDate>2005</copyrightDate><doi><json:string>10.1136/bjo.2004.058495</json:string></doi><id>C94508D8E25138548AC99C5C445270975305210F</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/C94508D8E25138548AC99C5C445270975305210F/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/C94508D8E25138548AC99C5C445270975305210F/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/C94508D8E25138548AC99C5C445270975305210F/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher scheme="https://publisher-list.data.istex.fr">BMJ Publishing Group Ltd.</publisher><pubPlace>BMA House, Tavistock Square, London, WC1H 9JR</pubPlace><availability><licence><p>Copyright 2005 British Journal of Ophthalmology</p></licence><p scheme="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-7M42M2QJ-2">bmj</p></availability><date>2005-06-17</date></publicationStmt><notesStmt><note type="other" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-7474895G-0">other</note><note type="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note><note>Correspondence to: Associate Professor David Mackey The Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, VIC 3002, Australia; d.mackey@utas.edu.au</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes</title><author xml:id="author-0000"><persName><forename type="first">J D</forename><surname>McKay</surname></persName><affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</affiliation><affiliation>Genome analysis team, International Agency for Research on Cancer, Lyons, France</affiliation></author><author xml:id="author-0001"><persName><forename type="first">B</forename><surname>Patterson</surname></persName><affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</affiliation></author><author xml:id="author-0002"><persName><forename type="first">J E</forename><surname>Craig</surname></persName><affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</affiliation><affiliation>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</affiliation><affiliation>Department of Ophthalmology, Flinders University, Flinders Drive, Bedford Park, South Australia</affiliation></author><author xml:id="author-0003"><persName><forename type="first">I M</forename><surname>Russell-Eggitt</surname></persName><affiliation>Great Ormond St Hospital for Children, London, UK</affiliation></author><author xml:id="author-0004"><persName><forename type="first">M G</forename><surname>Wirth</surname></persName><affiliation>Department of Ophthalmology, Royal Children’s Hospital, Melbourne, Australia</affiliation></author><author xml:id="author-0005"><persName><forename type="first">K P</forename><surname>Burdon</surname></persName><affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</affiliation><affiliation>Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA</affiliation></author><author xml:id="author-0006"><persName><forename type="first">A W</forename><surname>Hewitt</surname></persName><affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</affiliation></author><author xml:id="author-0007"><persName><forename type="first">A C</forename><surname>Cohn</surname></persName><affiliation>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</affiliation></author><author xml:id="author-0008"><persName><forename type="first">Y</forename><surname>Kerdraon</surname></persName><affiliation>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</affiliation></author><author xml:id="author-0009"><persName><forename type="first">D A</forename><surname>Mackey</surname></persName><affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</affiliation><affiliation>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</affiliation></author><idno type="istex">C94508D8E25138548AC99C5C445270975305210F</idno><idno type="ark">ark:/67375/NVC-ZKLT05FS-B</idno><idno type="DOI">10.1136/bjo.2004.058495</idno><idno type="href">bjophthalmol-89-831.pdf</idno><idno type="PMID">15965161</idno><idno type="local">0890831</idno></analytic><monogr><title level="j">British Journal of Ophthalmology</title><title level="j" type="abbrev">Br J Ophthalmol</title><idno type="pISSN">0007-1161</idno><idno type="eISSN">1468-2079</idno><idno type="PublisherID-hwp">bjophthalmol</idno><idno type="PublisherID-nlm-ta">Br J Ophthalmol</idno><imprint><publisher>BMJ Publishing Group Ltd.</publisher><pubPlace>BMA House, Tavistock Square, London, WC1H 9JR</pubPlace><date type="published" when="2005-07"></date><biblScope unit="volume">89</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="831">831</biblScope></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2005-06-17</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Aims: Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract. Linkage analysis was used to map the genetic locus in a six generation Australian family presenting with total congenital cataract. Methods: Microsatellite markers located across all known autosomal dominant congenital cataract loci were genotyped in all recruited family members of the Tasmanian family. Both two point and multipoint linkage analysis were used to assess each locus under an autosomal dominant model. Results: Significant linkage was detected at the telomere of the p arm of chromosome 1, with a maximum two point LOD of 4.21 at marker D1S507, a maximum multipoint exact LOD of 5.44, and an estimated location score of 5.61 at marker D1S507. Haplotype analysis places the gene inside a critical region between D1S228 and D1S199, a distance of approximately 6 megabases. The candidate gene PAX7 residing within the critical interval was excluded by direct sequencing in affected individuals. Conclusion: This is the third report of congenital cataract linkage to 1ptel. The critical region as defined by the shared haplotype in this family is clearly centromeric from the Volkmann cataract locus identified through study of a Danish family, indicating that two genes causing autosomal dominant congenital cataract map to the telomeric region of chromosome 1p.</p></abstract><textClass><keywords scheme="keyword"><list><head>keywords</head><item><term>ADCC, autosomal dominant congenital cataract</term></item><item><term>PCR, polymerase chain reaction</term></item><item><term>SNP, single nucleotide polymorphism</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>keywords</head><item><term>congenital cataract</term></item><item><term>genetics</term></item><item><term>chromosome</term></item><item><term>telomere</term></item><item><term>linkage</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head></head><item><term>Scientific reports</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>hwp-journal-coll</head><item><term>Lens and zonules</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2005-06-17">Created</change><change when="2005-07">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/C94508D8E25138548AC99C5C445270975305210F/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus bmj" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="no"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Archiving and Interchange DTD v2.3 20070202//EN" URI="archivearticle.dtd" name="istex:docType"></istex:docType><istex:document><article xml:lang="en" article-type="other"><front><journal-meta><journal-id journal-id-type="hwp">bjophthalmol</journal-id><journal-id journal-id-type="nlm-ta">Br J Ophthalmol</journal-id><journal-title>British Journal of Ophthalmology</journal-title><abbrev-journal-title abbrev-type="publisher">Br J Ophthalmol</abbrev-journal-title><issn pub-type="ppub">0007-1161</issn><issn pub-type="epub">1468-2079</issn><publisher><publisher-name>BMJ Publishing Group Ltd.</publisher-name><publisher-loc>BMA House, Tavistock Square, London, WC1H 9JR</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="other">0890831</article-id><article-id pub-id-type="doi">10.1136/bjo.2004.058495</article-id><article-id pub-id-type="other">bjophthalmol;89/7/831</article-id><article-id pub-id-type="pmid">15965161</article-id><article-id pub-id-type="other">831</article-id><article-id pub-id-type="other">bjo.2004.058495</article-id><article-categories><subj-group subj-group-type="heading"><subject>Clinical science</subject><subj-group><subject>Scientific reports</subject></subj-group></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Lens and zonules</subject></subj-group></article-categories><title-group><article-title>The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes</article-title></title-group><contrib-group><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>McKay</surname><given-names>J D</given-names></name><xref rid="AFF1">1</xref><xref rid="AFF2">2</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Patterson</surname><given-names>B</given-names></name><xref rid="AFF1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Craig</surname><given-names>J E</given-names></name><xref rid="AFF1">1</xref><xref rid="AFF3">3</xref><xref rid="AFF4">4</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Russell-Eggitt</surname><given-names>I M</given-names></name><xref rid="AFF5">5</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Wirth</surname><given-names>M G</given-names></name><xref rid="AFF6">6</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Burdon</surname><given-names>K P</given-names></name><xref rid="AFF1">1</xref><xref rid="AFF7">7</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Hewitt</surname><given-names>A W</given-names></name><xref rid="AFF1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Cohn</surname><given-names>A C</given-names></name><xref rid="AFF3">3</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Kerdraon</surname><given-names>Y</given-names></name><xref rid="AFF3">3</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Mackey</surname><given-names>D A</given-names></name><xref rid="AFF1">1</xref><xref rid="AFF3">3</xref></contrib><aff id="AFF1"><label>1</label>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</aff><aff id="AFF2"><label>2</label>Genome analysis team, International Agency for Research on Cancer, Lyons, France</aff><aff id="AFF3"><label>3</label>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</aff><aff id="AFF4"><label>4</label>Department of Ophthalmology, Flinders University, Flinders Drive, Bedford Park, South Australia</aff><aff id="AFF5"><label>5</label>Great Ormond St Hospital for Children, London, UK</aff><aff id="AFF6"><label>6</label>Department of Ophthalmology, Royal Children’s Hospital, Melbourne, Australia</aff><aff id="AFF7"><label>7</label>Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA</aff></contrib-group><author-notes><corresp>Correspondence to: Associate Professor David Mackey The Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, VIC 3002, Australia; <ext-link xlink:href="d.mackeyutas.edu.au" ext-link-type="email" xlink:type="simple">d.mackey@utas.edu.au</ext-link></corresp></author-notes><pub-date pub-type="ppub"><month>7</month><year>2005</year></pub-date><pub-date pub-type="epub"><day>17</day><month>6</month><year>2005</year></pub-date><volume>89</volume><volume-id pub-id-type="other">89</volume-id><volume-id pub-id-type="other">89</volume-id><issue>7</issue><issue-id pub-id-type="other">bjophthalmol;89/7</issue-id><issue-id pub-id-type="other">7</issue-id><issue-id pub-id-type="other">89/7</issue-id><fpage>831</fpage><permissions><copyright-statement>Copyright 2005 British Journal of Ophthalmology</copyright-statement><copyright-year>2005</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="bjophthalmol-89-831.pdf"></self-uri><abstract xml:lang="en"><p><bold>Aims:</bold> Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract. Linkage analysis was used to map the genetic locus in a six generation Australian family presenting with total congenital cataract.</p><p><bold>Methods:</bold> Microsatellite markers located across all known autosomal dominant congenital cataract loci were genotyped in all recruited family members of the Tasmanian family. Both two point and multipoint linkage analysis were used to assess each locus under an autosomal dominant model.</p><p><bold>Results:</bold> Significant linkage was detected at the telomere of the p arm of chromosome 1, with a maximum two point LOD of 4.21 at marker D1S507, a maximum multipoint exact LOD of 5.44, and an estimated location score of 5.61 at marker D1S507. Haplotype analysis places the gene inside a critical region between D1S228 and D1S199, a distance of approximately 6 megabases. The candidate gene <italic>PAX7</italic> residing within the critical interval was excluded by direct sequencing in affected individuals.</p><p><bold>Conclusion:</bold> This is the third report of congenital cataract linkage to 1ptel. The critical region as defined by the shared haplotype in this family is clearly centromeric from the Volkmann cataract locus identified through study of a Danish family, indicating that two genes causing autosomal dominant congenital cataract map to the telomeric region of chromosome 1p.</p></abstract><kwd-group><kwd>ADCC, autosomal dominant congenital cataract</kwd><kwd>PCR, polymerase chain reaction</kwd><kwd>SNP, single nucleotide polymorphism</kwd></kwd-group><kwd-group><kwd>congenital cataract</kwd><kwd>genetics</kwd><kwd>chromosome</kwd><kwd>telomere</kwd><kwd>linkage</kwd></kwd-group></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes</title></titleInfo><name type="personal"><namePart type="given">J D</namePart><namePart type="family">McKay</namePart><affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</affiliation><affiliation>Genome analysis team, International Agency for Research on Cancer, Lyons, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">B</namePart><namePart type="family">Patterson</namePart><affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J E</namePart><namePart type="family">Craig</namePart><affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</affiliation><affiliation>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</affiliation><affiliation>Department of Ophthalmology, Flinders University, Flinders Drive, Bedford Park, South Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">I M</namePart><namePart type="family">Russell-Eggitt</namePart><affiliation>Great Ormond St Hospital for Children, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M G</namePart><namePart type="family">Wirth</namePart><affiliation>Department of Ophthalmology, Royal Children’s Hospital, Melbourne, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">K P</namePart><namePart type="family">Burdon</namePart><affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</affiliation><affiliation>Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A W</namePart><namePart type="family">Hewitt</namePart><affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A C</namePart><namePart type="family">Cohn</namePart><affiliation>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Y</namePart><namePart type="family">Kerdraon</namePart><affiliation>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">D A</namePart><namePart type="family">Mackey</namePart><affiliation>Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</affiliation><affiliation>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="other" displayLabel="other" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-7474895G-0">other</genre><originInfo><publisher>BMJ Publishing Group Ltd.</publisher><place><placeTerm type="text">BMA House, Tavistock Square, London, WC1H 9JR</placeTerm></place><dateIssued encoding="w3cdtf">2005-07</dateIssued><dateCreated encoding="w3cdtf">2005-06-17</dateCreated><copyrightDate encoding="w3cdtf">2005</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><abstract lang="en">Aims: Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract. Linkage analysis was used to map the genetic locus in a six generation Australian family presenting with total congenital cataract. Methods: Microsatellite markers located across all known autosomal dominant congenital cataract loci were genotyped in all recruited family members of the Tasmanian family. Both two point and multipoint linkage analysis were used to assess each locus under an autosomal dominant model. Results: Significant linkage was detected at the telomere of the p arm of chromosome 1, with a maximum two point LOD of 4.21 at marker D1S507, a maximum multipoint exact LOD of 5.44, and an estimated location score of 5.61 at marker D1S507. Haplotype analysis places the gene inside a critical region between D1S228 and D1S199, a distance of approximately 6 megabases. The candidate gene PAX7 residing within the critical interval was excluded by direct sequencing in affected individuals. Conclusion: This is the third report of congenital cataract linkage to 1ptel. The critical region as defined by the shared haplotype in this family is clearly centromeric from the Volkmann cataract locus identified through study of a Danish family, indicating that two genes causing autosomal dominant congenital cataract map to the telomeric region of chromosome 1p.</abstract><note type="author-notes">Correspondence to: Associate Professor David Mackey The Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, VIC 3002, Australia; d.mackey@utas.edu.au</note><subject><genre>keywords</genre><topic>ADCC, autosomal dominant congenital cataract</topic><topic>PCR, polymerase chain reaction</topic><topic>SNP, single nucleotide polymorphism</topic></subject><subject><genre>keywords</genre><topic>congenital cataract</topic><topic>genetics</topic><topic>chromosome</topic><topic>telomere</topic><topic>linkage</topic></subject><relatedItem type="host"><titleInfo><title>British Journal of Ophthalmology</title></titleInfo><titleInfo type="abbreviated"><title>Br J Ophthalmol</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><subject><topic>Scientific reports</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Lens and zonules</topic></subject><identifier type="ISSN">0007-1161</identifier><identifier type="eISSN">1468-2079</identifier><identifier type="PublisherID-hwp">bjophthalmol</identifier><identifier type="PublisherID-nlm-ta">Br J Ophthalmol</identifier><part><date>2005</date><detail type="volume"><caption>vol.</caption><number>89</number></detail><detail type="issue"><caption>no.</caption><number>7</number></detail><extent unit="pages"><start>831</start></extent></part></relatedItem><identifier type="istex">C94508D8E25138548AC99C5C445270975305210F</identifier><identifier type="ark">ark:/67375/NVC-ZKLT05FS-B</identifier><identifier type="DOI">10.1136/bjo.2004.058495</identifier><identifier type="href">bjophthalmol-89-831.pdf</identifier><identifier type="PMID">15965161</identifier><identifier type="local">0890831</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright 2005 British Journal of Ophthalmology</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-7M42M2QJ-2">bmj</recordContentSource><recordOrigin>Copyright 2005 British Journal of Ophthalmology</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/C94508D8E25138548AC99C5C445270975305210F/metadata/json</uri></json:item></metadata><annexes><json:item><extension>jpeg</extension><original>true</original><mimetype>image/jpeg</mimetype><uri>https://api.istex.fr/document/C94508D8E25138548AC99C5C445270975305210F/annexes/jpeg</uri></json:item></annexes><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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