Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct
BACKGROUND Congenital hereditary endothelial dystrophy (CHED) is a corneal dystrophy characterised by diffuse bilateral corneal clouding resulting in impaired vision. It is inherited in either an autosomal dominant (AD) or autosomal recessive (AR) manner. The AD form of CHED has been mapped to the p...
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| Veröffentlicht in: | British journal of ophthalmology 1999-01, Vol.83 (1), p.115-119 |
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| creator | Callaghan, Máire Hand, Collette K Kennedy, Susan M FitzSimon, J Susan Collum, Louis M T Parfrey, Nollaig A |
| description | BACKGROUND Congenital hereditary endothelial dystrophy (CHED) is a corneal dystrophy characterised by diffuse bilateral corneal clouding resulting in impaired vision. It is inherited in either an autosomal dominant (AD) or autosomal recessive (AR) manner. The AD form of CHED has been mapped to the pericentromeric region of chromosome 20. Another endothelial dystrophy, posterior polymorphous dystrophy (PPM), has been linked to a larger but overlapping region on chromosome 20. A large, Irish, consanguineous family with AR CHED was investigated to determine if there was linkage to this region. METHODS The technique of linkage analysis with polymorphic microsatellite markers amplified by polymerase chain reaction (PCR) was used. In addition, a DNA pooling approach to homozygosity mapping was employed to demonstrate the efficiency of this method. RESULTS Conventional genetic analysis in addition to a pooled DNA strategy excludes linkage of AR CHED to the AD CHED and larger PPMD loci. CONCLUSION This demonstrates that AR CHED is genetically distinct from AD CHED and PPMD. |
| doi_str_mv | 10.1136/bjo.83.1.115 |
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It is inherited in either an autosomal dominant (AD) or autosomal recessive (AR) manner. The AD form of CHED has been mapped to the pericentromeric region of chromosome 20. Another endothelial dystrophy, posterior polymorphous dystrophy (PPM), has been linked to a larger but overlapping region on chromosome 20. A large, Irish, consanguineous family with AR CHED was investigated to determine if there was linkage to this region. METHODS The technique of linkage analysis with polymorphic microsatellite markers amplified by polymerase chain reaction (PCR) was used. In addition, a DNA pooling approach to homozygosity mapping was employed to demonstrate the efficiency of this method. RESULTS Conventional genetic analysis in addition to a pooled DNA strategy excludes linkage of AR CHED to the AD CHED and larger PPMD loci. CONCLUSION This demonstrates that AR CHED is genetically distinct from AD CHED and PPMD.</description><identifier>ISSN: 0007-1161</identifier><identifier>EISSN: 1468-2079</identifier><identifier>DOI: 10.1136/bjo.83.1.115</identifier><identifier>PMID: 10209448</identifier><identifier>CODEN: BJOPAL</identifier><language>eng</language><publisher>BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd</publisher><subject>Biological and medical sciences ; Chromosome Mapping ; Congenital diseases ; congenital hereditary endothelial dystrophy ; Corneal Dystrophies, Hereditary - genetics ; Defects ; Deoxyribonucleic acid ; Disease ; Diseases of cornea, anterior segment and sclera ; DNA ; Female ; Genes ; Genetic testing ; Genomes ; homozygosity mapping ; Homozygote ; Humans ; linkage analysis ; Male ; Medical sciences ; Microsatellite Repeats ; Ophthalmology ; Original articles - Laboratory science ; Pedigree ; Polymorphism, Genetic ; posterior polymorphous dystrophy</subject><ispartof>British journal of ophthalmology, 1999-01, Vol.83 (1), p.115-119</ispartof><rights>British Journal of Ophthalmology</rights><rights>1999 INIST-CNRS</rights><rights>Copyright: 1999 British Journal of Ophthalmology</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b507t-797a5f3a6278d359718082fa0a8830917fb522db70cb78c2856daa8cd06d5b7d3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1722772/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1722772/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,725,778,782,883,4012,27906,27907,27908,53774,53776</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1655356$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10209448$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Callaghan, Máire</creatorcontrib><creatorcontrib>Hand, Collette K</creatorcontrib><creatorcontrib>Kennedy, Susan M</creatorcontrib><creatorcontrib>FitzSimon, J Susan</creatorcontrib><creatorcontrib>Collum, Louis M T</creatorcontrib><creatorcontrib>Parfrey, Nollaig A</creatorcontrib><title>Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct</title><title>British journal of ophthalmology</title><addtitle>Br J Ophthalmol</addtitle><description>BACKGROUND Congenital hereditary endothelial dystrophy (CHED) is a corneal dystrophy characterised by diffuse bilateral corneal clouding resulting in impaired vision. It is inherited in either an autosomal dominant (AD) or autosomal recessive (AR) manner. The AD form of CHED has been mapped to the pericentromeric region of chromosome 20. Another endothelial dystrophy, posterior polymorphous dystrophy (PPM), has been linked to a larger but overlapping region on chromosome 20. A large, Irish, consanguineous family with AR CHED was investigated to determine if there was linkage to this region. METHODS The technique of linkage analysis with polymorphic microsatellite markers amplified by polymerase chain reaction (PCR) was used. In addition, a DNA pooling approach to homozygosity mapping was employed to demonstrate the efficiency of this method. RESULTS Conventional genetic analysis in addition to a pooled DNA strategy excludes linkage of AR CHED to the AD CHED and larger PPMD loci. CONCLUSION This demonstrates that AR CHED is genetically distinct from AD CHED and PPMD.</description><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>Congenital diseases</subject><subject>congenital hereditary endothelial dystrophy</subject><subject>Corneal Dystrophies, Hereditary - genetics</subject><subject>Defects</subject><subject>Deoxyribonucleic acid</subject><subject>Disease</subject><subject>Diseases of cornea, anterior segment and sclera</subject><subject>DNA</subject><subject>Female</subject><subject>Genes</subject><subject>Genetic testing</subject><subject>Genomes</subject><subject>homozygosity mapping</subject><subject>Homozygote</subject><subject>Humans</subject><subject>linkage analysis</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Microsatellite Repeats</subject><subject>Ophthalmology</subject><subject>Original articles - Laboratory science</subject><subject>Pedigree</subject><subject>Polymorphism, Genetic</subject><subject>posterior polymorphous dystrophy</subject><issn>0007-1161</issn><issn>1468-2079</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9kluLEzEUxwdR3Lr65rMEXLyAU5NMc5kXQepqlaJS1NdwZpK26c4kNUkXxw_m5zO1ZXf1waecy4__ueQUxUOCx4RU_GWz8WNZjUn22K1iRCZclhSL-nYxwhiLkhBOTop7MW6ySzkRd4sTgimuJxM5Kn7NfO9_DisfbRpQD9utdSsETqPOugtYmWxDN0QbkTa9dzEFSAalNSQEu-Sj76FDwbQmRntpUOvdyjibcnBtgtHZCgMyTvu0Np3NYT1kDb9dD-jZdHb-5vmfYtdS2vfWgUton0QQDMp6JtkWum5A2sZkXZvuF3eW0EXz4PieFl_fnn-Zzsr5p3fvp6_nZcOwSKWoBbBlBZwKqStWCyKxpEvAIGWFayKWDaNUNwK3jZAtlYxrANlqzDVrhK5Oi1cH3e2u6Y1ujcvzd2obbJ_nUh6s-jvj7Fqt_KUiglIhaBZ4chQI_vvOxKR6G1vTdeCM30XFa4FZjffg43_Ajd-FvPuYtYSsOZWYZerFgWqDjzGY5VUrBKv9Oah8DkpWimRvjz-62f4N-PD_GTg7AhDzhpcBXGvjNccZqxjPWHnA8vrNj6s0hAvFRSWY-vhtqhbTD4vJfPFZ7fmnB77pN__v8Denkt58</recordid><startdate>199901</startdate><enddate>199901</enddate><creator>Callaghan, Máire</creator><creator>Hand, Collette K</creator><creator>Kennedy, Susan M</creator><creator>FitzSimon, J Susan</creator><creator>Collum, Louis M T</creator><creator>Parfrey, Nollaig A</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>199901</creationdate><title>Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct</title><author>Callaghan, Máire ; Hand, Collette K ; Kennedy, Susan M ; FitzSimon, J Susan ; Collum, Louis M T ; Parfrey, Nollaig A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b507t-797a5f3a6278d359718082fa0a8830917fb522db70cb78c2856daa8cd06d5b7d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Biological and medical sciences</topic><topic>Chromosome Mapping</topic><topic>Congenital diseases</topic><topic>congenital hereditary endothelial dystrophy</topic><topic>Corneal Dystrophies, Hereditary - genetics</topic><topic>Defects</topic><topic>Deoxyribonucleic acid</topic><topic>Disease</topic><topic>Diseases of cornea, anterior segment and sclera</topic><topic>DNA</topic><topic>Female</topic><topic>Genes</topic><topic>Genetic testing</topic><topic>Genomes</topic><topic>homozygosity mapping</topic><topic>Homozygote</topic><topic>Humans</topic><topic>linkage analysis</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Microsatellite Repeats</topic><topic>Ophthalmology</topic><topic>Original articles - Laboratory science</topic><topic>Pedigree</topic><topic>Polymorphism, Genetic</topic><topic>posterior polymorphous dystrophy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Callaghan, Máire</creatorcontrib><creatorcontrib>Hand, Collette K</creatorcontrib><creatorcontrib>Kennedy, Susan M</creatorcontrib><creatorcontrib>FitzSimon, J Susan</creatorcontrib><creatorcontrib>Collum, Louis M T</creatorcontrib><creatorcontrib>Parfrey, Nollaig A</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>British journal of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Callaghan, Máire</au><au>Hand, Collette K</au><au>Kennedy, Susan M</au><au>FitzSimon, J Susan</au><au>Collum, Louis M T</au><au>Parfrey, Nollaig A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct</atitle><jtitle>British journal of ophthalmology</jtitle><addtitle>Br J Ophthalmol</addtitle><date>1999-01</date><risdate>1999</risdate><volume>83</volume><issue>1</issue><spage>115</spage><epage>119</epage><pages>115-119</pages><issn>0007-1161</issn><eissn>1468-2079</eissn><coden>BJOPAL</coden><abstract>BACKGROUND Congenital hereditary endothelial dystrophy (CHED) is a corneal dystrophy characterised by diffuse bilateral corneal clouding resulting in impaired vision. It is inherited in either an autosomal dominant (AD) or autosomal recessive (AR) manner. The AD form of CHED has been mapped to the pericentromeric region of chromosome 20. Another endothelial dystrophy, posterior polymorphous dystrophy (PPM), has been linked to a larger but overlapping region on chromosome 20. A large, Irish, consanguineous family with AR CHED was investigated to determine if there was linkage to this region. METHODS The technique of linkage analysis with polymorphic microsatellite markers amplified by polymerase chain reaction (PCR) was used. In addition, a DNA pooling approach to homozygosity mapping was employed to demonstrate the efficiency of this method. RESULTS Conventional genetic analysis in addition to a pooled DNA strategy excludes linkage of AR CHED to the AD CHED and larger PPMD loci. CONCLUSION This demonstrates that AR CHED is genetically distinct from AD CHED and PPMD.</abstract><cop>BMA House, Tavistock Square, London, WC1H 9JR</cop><pub>BMJ Publishing Group Ltd</pub><pmid>10209448</pmid><doi>10.1136/bjo.83.1.115</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Biological and medical sciences Chromosome Mapping Congenital diseases congenital hereditary endothelial dystrophy Corneal Dystrophies, Hereditary - genetics Defects Deoxyribonucleic acid Disease Diseases of cornea, anterior segment and sclera DNA Female Genes Genetic testing Genomes homozygosity mapping Homozygote Humans linkage analysis Male Medical sciences Microsatellite Repeats Ophthalmology Original articles - Laboratory science Pedigree Polymorphism, Genetic posterior polymorphous dystrophy |
| title | Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct |
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