Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa
Our purpose was to search for mutations in the apolipoprotein E (apoE) gene and to evaluate the role of apoE polymorphisms in the occurrence of autosomal dominant retinitis pigmentosa (ADRP). The ApoE gene coding sequence was analyzed in 51 unrelated patients affected with ADRP. A screening for muta...
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| Veröffentlicht in: | Vision research (Oxford) 1998-12, Vol.38 (24), p.3829-3831 |
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| container_title | Vision research (Oxford) |
| container_volume | 38 |
| creator | Souied, Eric H Benlian, Pascale Rozet, Jean-Michel Gerber, Sylvie Lagarde, Jean-Pierre Coscas, Gabriel Soubrane, Gisèle Duffier, Jean-Louis Munnich, Arnold Kaplan, Josseline |
| description | Our purpose was to search for mutations in the apolipoprotein E (apoE) gene and to evaluate the role of apoE polymorphisms in the occurrence of autosomal dominant retinitis pigmentosa (ADRP). The ApoE gene coding sequence was analyzed in 51 unrelated patients affected with ADRP. A screening for mutations by SSCP and an analysis of the apoE polymorphisms were performed using PCR and restriction enzymatic digestion . No abnormal patterns of migration were observed by SSCP analysis. No significant statistical difference was seen between our ADRP population and the French general population for apoE allele frequency. From these results we report that the apoE gene does not seems to be involved in our ADRP population. |
| doi_str_mv | 10.1016/S0042-6989(98)00176-X |
| format | Article |
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The ApoE gene coding sequence was analyzed in 51 unrelated patients affected with ADRP. A screening for mutations by SSCP and an analysis of the apoE polymorphisms were performed using PCR and restriction enzymatic digestion . No abnormal patterns of migration were observed by SSCP analysis. No significant statistical difference was seen between our ADRP population and the French general population for apoE allele frequency. From these results we report that the apoE gene does not seems to be involved in our ADRP population.</description><subject>ApoE</subject><subject>Apolipoproteins E - genetics</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Gene Frequency</subject><subject>Genetics</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Molecular biology</subject><subject>Mutation</subject><subject>Ophthalmology</subject><subject>Polymorphism, Genetic</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Retina</subject><subject>Retinitis pigmentosa</subject><subject>Retinitis Pigmentosa - genetics</subject><subject>Retinopathies</subject><issn>0042-6989</issn><issn>1878-5646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0MFu1DAQgGELUdGl8AggH1BFD4EZO3HsU1VVS6lUiUOL1JvldSbFKLEXO0Ht25N2VxW3nnz5Zjz6GfuA8AUB1ddrgFpUymjz2egTAGxVdfuKrVC3umpUrV6z1TM5ZG9L-Q0AbSPMG3aIIBBl26zYen3vh7mEFHnq-fSLuNumNb-jSDxE7uYplTS6gXdpDNHFiWeaQgxTKHwb7kaKC3Dv2EHvhkLv9-8R-_ltfXP-vbr6cXF5fnZVeWlgqiSZ3iAKj0ZJgc40mpbroNcb32vpW9mKxtVAHcjl0K7ulHAbFC32oH1TyyN2vNu7zenPTGWyYyiehsFFSnOxyqAxGmGBzQ76nErJ1NttDqPLDxbBPvazT_3sYxxrtH3qZ2-XuY_7D-bNSN1_U7tgC_i0B654N_TZRR_KsxNSQd2ahZ3uGC01_gbKtvhA0VMXMvnJdim8cMk_WNuLww</recordid><startdate>19981201</startdate><enddate>19981201</enddate><creator>Souied, Eric H</creator><creator>Benlian, Pascale</creator><creator>Rozet, Jean-Michel</creator><creator>Gerber, Sylvie</creator><creator>Lagarde, Jean-Pierre</creator><creator>Coscas, Gabriel</creator><creator>Soubrane, Gisèle</creator><creator>Duffier, Jean-Louis</creator><creator>Munnich, Arnold</creator><creator>Kaplan, Josseline</creator><general>Elsevier Ltd</general><general>Elsevier Science</general><scope>6I.</scope><scope>AAFTH</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>7X8</scope></search><sort><creationdate>19981201</creationdate><title>Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa</title><author>Souied, Eric H ; Benlian, Pascale ; Rozet, Jean-Michel ; Gerber, Sylvie ; Lagarde, Jean-Pierre ; Coscas, Gabriel ; Soubrane, Gisèle ; Duffier, Jean-Louis ; Munnich, Arnold ; Kaplan, Josseline</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c390t-3e9f9112c196321a958e9890f8bcf83c73725a40ed03529d4d62ab1271f08c543</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>ApoE</topic><topic>Apolipoproteins E - genetics</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Gene Frequency</topic><topic>Genetics</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Molecular biology</topic><topic>Mutation</topic><topic>Ophthalmology</topic><topic>Polymorphism, Genetic</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Retina</topic><topic>Retinitis pigmentosa</topic><topic>Retinitis Pigmentosa - genetics</topic><topic>Retinopathies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Souied, Eric H</creatorcontrib><creatorcontrib>Benlian, Pascale</creatorcontrib><creatorcontrib>Rozet, Jean-Michel</creatorcontrib><creatorcontrib>Gerber, Sylvie</creatorcontrib><creatorcontrib>Lagarde, Jean-Pierre</creatorcontrib><creatorcontrib>Coscas, Gabriel</creatorcontrib><creatorcontrib>Soubrane, Gisèle</creatorcontrib><creatorcontrib>Duffier, Jean-Louis</creatorcontrib><creatorcontrib>Munnich, Arnold</creatorcontrib><creatorcontrib>Kaplan, Josseline</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</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>MEDLINE - Academic</collection><jtitle>Vision research (Oxford)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Souied, Eric H</au><au>Benlian, Pascale</au><au>Rozet, Jean-Michel</au><au>Gerber, Sylvie</au><au>Lagarde, Jean-Pierre</au><au>Coscas, Gabriel</au><au>Soubrane, Gisèle</au><au>Duffier, Jean-Louis</au><au>Munnich, Arnold</au><au>Kaplan, Josseline</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa</atitle><jtitle>Vision research (Oxford)</jtitle><addtitle>Vision Res</addtitle><date>1998-12-01</date><risdate>1998</risdate><volume>38</volume><issue>24</issue><spage>3829</spage><epage>3831</epage><pages>3829-3831</pages><issn>0042-6989</issn><eissn>1878-5646</eissn><coden>VISRAM</coden><abstract>Our purpose was to search for mutations in the apolipoprotein E (apoE) gene and to evaluate the role of apoE polymorphisms in the occurrence of autosomal dominant retinitis pigmentosa (ADRP). 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| source | MEDLINE; Access via ScienceDirect (Elsevier); EZB-FREE-00999 freely available EZB journals |
| subjects | ApoE Apolipoproteins E - genetics Base Sequence Biological and medical sciences Gene Frequency Genetics Humans Medical sciences Molecular biology Mutation Ophthalmology Polymorphism, Genetic Polymorphism, Single-Stranded Conformational Retina Retinitis pigmentosa Retinitis Pigmentosa - genetics Retinopathies |
| title | Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa |
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