Independent segregation of fundus albipunctatus and the transthyretin (prealbumin) gene
A defect in the visual cycle has been suspected in patients with fundus albipunctatus (FALB), rendering genes encoding visual cycle components etiologic candidates. One such component is the retinoid and thyroxine transport protein transthyretin (TTR, prealbumin) which in the eye is synthesized only...
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| Veröffentlicht in: | Ophthalmic genetics 1991, Vol.12 (4), p.171-176 |
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| container_title | Ophthalmic genetics |
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| creator | Kim, R. Y. Saperstein, D. A. Nickerson, J. M. |
| description | A defect in the visual cycle has been suspected in patients with fundus albipunctatus (FALB), rendering genes encoding visual cycle components etiologic candidates. One such component is the retinoid and thyroxine transport protein transthyretin (TTR, prealbumin) which in the eye is synthesized only in the retinal pigment epithelium and is believed to play a role in retinal retinoid transport. The authors established polymerase chain reaction conditions that allow rapid assay of TTR alleles as defined by Msp1 and Fnu4H1 restriction fragment length polymorphisms. In a candidate gene analysis of an affected family, they demonstrate independent segregation of the TTR and FALB disease loci. These results exclude the possibility that a TTR gene defect causes FALB in this family. |
| doi_str_mv | 10.3109/13816819109025813 |
| format | Article |
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Y. ; Saperstein, D. A. ; Nickerson, J. M.</creator><creatorcontrib>Kim, R. Y. ; Saperstein, D. A. ; Nickerson, J. M.</creatorcontrib><description>A defect in the visual cycle has been suspected in patients with fundus albipunctatus (FALB), rendering genes encoding visual cycle components etiologic candidates. One such component is the retinoid and thyroxine transport protein transthyretin (TTR, prealbumin) which in the eye is synthesized only in the retinal pigment epithelium and is believed to play a role in retinal retinoid transport. The authors established polymerase chain reaction conditions that allow rapid assay of TTR alleles as defined by Msp1 and Fnu4H1 restriction fragment length polymorphisms. In a candidate gene analysis of an affected family, they demonstrate independent segregation of the TTR and FALB disease loci. These results exclude the possibility that a TTR gene defect causes FALB in this family.</description><identifier>ISSN: 1381-6810</identifier><identifier>ISSN: 0167-6784</identifier><identifier>EISSN: 1744-5094</identifier><identifier>DOI: 10.3109/13816819109025813</identifier><identifier>PMID: 1687707</identifier><language>eng</language><publisher>Netherlands: Informa UK Ltd</publisher><subject>Alleles ; Base Sequence ; Family ; Female ; fundus albipunctatus ; Genetic Linkage ; Genotype ; Humans ; Molecular Sequence Data ; Night Blindness - genetics ; Oligonucleotide Probes ; Pedigree ; Polymerase Chain Reaction ; polymorphism ; Polymorphism, Genetic - genetics ; Polymorphism, Restriction Fragment Length ; prealbumin ; Prealbumin - genetics ; recombinant DNA ; RFLP ; transthyretin</subject><ispartof>Ophthalmic genetics, 1991, Vol.12 (4), p.171-176</ispartof><rights>1991 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted 1991</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c387t-6fac2e0dcb7a3f5a840de2f1298c5023461a5caa21a91207c618f4e671a944383</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.tandfonline.com/doi/pdf/10.3109/13816819109025813$$EPDF$$P50$$Ginformaworld$$H</linktopdf><linktohtml>$$Uhttps://www.tandfonline.com/doi/full/10.3109/13816819109025813$$EHTML$$P50$$Ginformaworld$$H</linktohtml><link.rule.ids>314,777,781,4010,27904,27905,27906,59626,60415,61200,61235,61381,61416</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1687707$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kim, R. Y.</creatorcontrib><creatorcontrib>Saperstein, D. A.</creatorcontrib><creatorcontrib>Nickerson, J. M.</creatorcontrib><title>Independent segregation of fundus albipunctatus and the transthyretin (prealbumin) gene</title><title>Ophthalmic genetics</title><addtitle>Ophthalmic Paediatr Genet</addtitle><description>A defect in the visual cycle has been suspected in patients with fundus albipunctatus (FALB), rendering genes encoding visual cycle components etiologic candidates. One such component is the retinoid and thyroxine transport protein transthyretin (TTR, prealbumin) which in the eye is synthesized only in the retinal pigment epithelium and is believed to play a role in retinal retinoid transport. The authors established polymerase chain reaction conditions that allow rapid assay of TTR alleles as defined by Msp1 and Fnu4H1 restriction fragment length polymorphisms. In a candidate gene analysis of an affected family, they demonstrate independent segregation of the TTR and FALB disease loci. These results exclude the possibility that a TTR gene defect causes FALB in this family.</description><subject>Alleles</subject><subject>Base Sequence</subject><subject>Family</subject><subject>Female</subject><subject>fundus albipunctatus</subject><subject>Genetic Linkage</subject><subject>Genotype</subject><subject>Humans</subject><subject>Molecular Sequence Data</subject><subject>Night Blindness - genetics</subject><subject>Oligonucleotide Probes</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>polymorphism</subject><subject>Polymorphism, Genetic - genetics</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>prealbumin</subject><subject>Prealbumin - genetics</subject><subject>recombinant DNA</subject><subject>RFLP</subject><subject>transthyretin</subject><issn>1381-6810</issn><issn>0167-6784</issn><issn>1744-5094</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEtLxDAQx4Mo6_MDeBB6Ej1Uk_SRFL3I4gsEL4rHMptOdittUpMU2W9vll0QEb0kM_wfDD9Cjhm9yBitLlkmWSlZFWfKC8myLbLHRJ6nBa3y7ThHPY0Gukv2vX-nlHPGigmZxJQQVOyRt0fT4IDxMSHxOHc4h9Bak1id6NE0o0-gm7XDaFSAsNpMk4QFJsGB8WGxdBhak5wNDqNv7FtznszR4CHZ0dB5PNr8B-T17vZl-pA-Pd8_Tm-eUpVJEdJSg-JIGzUTkOkCZE4b5JrxSqqC8iwvGRQKgDOoGKdClUzqHEsR9zzPZHZATte9g7MfI_pQ961X2HVg0I6-FlzQspBVNLK1UTnrvUNdD67twS1rRusVzPoXzJg52ZSPsx6b78SaXtSv13prtHU9fFrXNXWAZWedjnxU61fVf9df_YgvIsKwUOCwfrejM5HbP8d9AdHGlTA</recordid><startdate>1991</startdate><enddate>1991</enddate><creator>Kim, R. Y.</creator><creator>Saperstein, D. A.</creator><creator>Nickerson, J. M.</creator><general>Informa UK Ltd</general><general>Taylor & Francis</general><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>7X8</scope></search><sort><creationdate>1991</creationdate><title>Independent segregation of fundus albipunctatus and the transthyretin (prealbumin) gene</title><author>Kim, R. Y. ; Saperstein, D. A. ; Nickerson, J. M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c387t-6fac2e0dcb7a3f5a840de2f1298c5023461a5caa21a91207c618f4e671a944383</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1991</creationdate><topic>Alleles</topic><topic>Base Sequence</topic><topic>Family</topic><topic>Female</topic><topic>fundus albipunctatus</topic><topic>Genetic Linkage</topic><topic>Genotype</topic><topic>Humans</topic><topic>Molecular Sequence Data</topic><topic>Night Blindness - genetics</topic><topic>Oligonucleotide Probes</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>polymorphism</topic><topic>Polymorphism, Genetic - genetics</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>prealbumin</topic><topic>Prealbumin - genetics</topic><topic>recombinant DNA</topic><topic>RFLP</topic><topic>transthyretin</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kim, R. Y.</creatorcontrib><creatorcontrib>Saperstein, D. A.</creatorcontrib><creatorcontrib>Nickerson, J. M.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Ophthalmic genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kim, R. Y.</au><au>Saperstein, D. A.</au><au>Nickerson, J. M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Independent segregation of fundus albipunctatus and the transthyretin (prealbumin) gene</atitle><jtitle>Ophthalmic genetics</jtitle><addtitle>Ophthalmic Paediatr Genet</addtitle><date>1991</date><risdate>1991</risdate><volume>12</volume><issue>4</issue><spage>171</spage><epage>176</epage><pages>171-176</pages><issn>1381-6810</issn><issn>0167-6784</issn><eissn>1744-5094</eissn><abstract>A defect in the visual cycle has been suspected in patients with fundus albipunctatus (FALB), rendering genes encoding visual cycle components etiologic candidates. One such component is the retinoid and thyroxine transport protein transthyretin (TTR, prealbumin) which in the eye is synthesized only in the retinal pigment epithelium and is believed to play a role in retinal retinoid transport. The authors established polymerase chain reaction conditions that allow rapid assay of TTR alleles as defined by Msp1 and Fnu4H1 restriction fragment length polymorphisms. In a candidate gene analysis of an affected family, they demonstrate independent segregation of the TTR and FALB disease loci. These results exclude the possibility that a TTR gene defect causes FALB in this family.</abstract><cop>Netherlands</cop><pub>Informa UK Ltd</pub><pmid>1687707</pmid><doi>10.3109/13816819109025813</doi><tpages>6</tpages></addata></record> |
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| ispartof | Ophthalmic genetics, 1991, Vol.12 (4), p.171-176 |
| issn | 1381-6810 0167-6784 1744-5094 |
| language | eng |
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| source | Taylor & Francis Online; MEDLINE; Taylor & Francis Medical Library - CRKN |
| subjects | Alleles Base Sequence Family Female fundus albipunctatus Genetic Linkage Genotype Humans Molecular Sequence Data Night Blindness - genetics Oligonucleotide Probes Pedigree Polymerase Chain Reaction polymorphism Polymorphism, Genetic - genetics Polymorphism, Restriction Fragment Length prealbumin Prealbumin - genetics recombinant DNA RFLP transthyretin |
| title | Independent segregation of fundus albipunctatus and the transthyretin (prealbumin) gene |
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