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
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<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>
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<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>
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<contrib-group><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>McKay</surname>
<given-names>J D</given-names>
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<given-names>A W</given-names>
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<contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Cohn</surname>
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<contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Kerdraon</surname>
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<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>
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<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>
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<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>
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<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>
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<titleInfo type="abbreviated"><title>Br J Ophthalmol</title>
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<subject><topic>Scientific reports</topic>
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<subject><genre>hwp-journal-coll</genre>
<topic>Lens and zonules</topic>
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<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>
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<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>
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