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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes</title><author><name sortKey="Mckay, J D" sort="Mckay, J D" uniqKey="Mckay J" first="J D" last="Mckay">J D Mckay</name><affiliation><nlm:aff id="aff1">Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Genome analysis team, International Agency for Research on Cancer, Lyons, France</nlm:aff></affiliation></author><author><name sortKey="Patterson, B" sort="Patterson, B" uniqKey="Patterson B" first="B" last="Patterson">B. Patterson</name><affiliation><nlm:aff id="aff1">Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</nlm:aff></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><nlm:aff id="aff1">Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Department of Ophthalmology, Flinders University, Flinders Drive, Bedford Park, South Australia</nlm:aff></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><nlm:aff id="aff5">Great Ormond St Hospital for Children, London, UK</nlm:aff></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><nlm:aff id="aff6">Department of Ophthalmology, Royal Children’s Hospital, Melbourne, Australia</nlm:aff></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><nlm:aff id="aff1">Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA</nlm:aff></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><nlm:aff id="aff1">Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</nlm:aff></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><nlm:aff id="aff3">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Kerdraon, Y" sort="Kerdraon, Y" uniqKey="Kerdraon Y" first="Y" last="Kerdraon">Y. Kerdraon</name><affiliation><nlm:aff id="aff3">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</nlm:aff></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><nlm:aff id="aff1">Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">15965161</idno><idno type="pmc">1772710</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772710</idno><idno type="RBID">PMC:1772710</idno><idno type="doi">10.1136/bjo.2004.058495</idno><date when="2005">2005</date><idno type="wicri:Area/Pmc/Corpus">000F67</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000F67</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes</title><author><name sortKey="Mckay, J D" sort="Mckay, J D" uniqKey="Mckay J" first="J D" last="Mckay">J D Mckay</name><affiliation><nlm:aff id="aff1">Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Genome analysis team, International Agency for Research on Cancer, Lyons, France</nlm:aff></affiliation></author><author><name sortKey="Patterson, B" sort="Patterson, B" uniqKey="Patterson B" first="B" last="Patterson">B. Patterson</name><affiliation><nlm:aff id="aff1">Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</nlm:aff></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><nlm:aff id="aff1">Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Department of Ophthalmology, Flinders University, Flinders Drive, Bedford Park, South Australia</nlm:aff></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><nlm:aff id="aff5">Great Ormond St Hospital for Children, London, UK</nlm:aff></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><nlm:aff id="aff6">Department of Ophthalmology, Royal Children’s Hospital, Melbourne, Australia</nlm:aff></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><nlm:aff id="aff1">Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA</nlm:aff></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><nlm:aff id="aff1">Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</nlm:aff></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><nlm:aff id="aff3">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Kerdraon, Y" sort="Kerdraon, Y" uniqKey="Kerdraon Y" first="Y" last="Kerdraon">Y. Kerdraon</name><affiliation><nlm:aff id="aff3">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</nlm:aff></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><nlm:aff id="aff1">Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</nlm:aff></affiliation></author></analytic><series><title level="j">The British Journal of Ophthalmology</title><idno type="ISSN">0007-1161</idno><idno type="eISSN">1468-2079</idno><imprint><date when="2005">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="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></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Br J Ophthalmol</journal-id><journal-id journal-id-type="publisher-id">bjophthalmol</journal-id><journal-title>The British Journal of Ophthalmology</journal-title><issn pub-type="ppub">0007-1161</issn><issn pub-type="epub">1468-2079</issn><publisher><publisher-name>Copyright 2005 British Journal of Ophthalmology</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">15965161</article-id><article-id pub-id-type="pmc">1772710</article-id><article-id pub-id-type="publisher-id">0890831</article-id><article-id pub-id-type="doi">10.1136/bjo.2004.058495</article-id><article-categories><subj-group subj-group-type="heading"><subject>Clinical Science - Scientific Reports</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"><name><surname>McKay</surname><given-names>J D</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Patterson</surname><given-names>B</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Craig</surname><given-names>J E</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Russell-Eggitt</surname><given-names>I M</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Wirth</surname><given-names>M G</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Burdon</surname><given-names>K P</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Hewitt</surname><given-names>A W</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Cohn</surname><given-names>A C</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Kerdraon</surname><given-names>Y</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Mackey</surname><given-names>D A</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff3">3</xref></contrib></contrib-group><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><author-notes><fn><p>Correspondence to:
Associate Professor David Mackey
The Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, VIC 3002, Australia; <email>d.mackey@utas.edu.au</email></p></fn></author-notes><pub-date pub-type="ppub"><month>7</month><year>2005</year></pub-date><volume>89</volume><issue>7</issue><fpage>831</fpage><lpage>834</lpage><copyright-statement>Copyright © Copyright 2005 British Journal of Ophthalmology</copyright-statement><copyright-year>2005</copyright-year><abstract><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>congenital cataract</kwd><kwd>genetics</kwd><kwd>chromosome</kwd><kwd>telomere</kwd><kwd>linkage</kwd></kwd-group></article-meta><notes><fn-group><fn><p>Competing interests: none declared</p></fn></fn-group></notes></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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