Linkage analysis of X linked retinitis pigmentosa in the Irish population
There is significant evidence for genetic and phenotypic heterogeneity in X linked retinitis pigmentosa (XLRP). We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.28) locus and the XLRP locus (Z = 3.445, theta = 0...
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| Veröffentlicht in: | Journal of medical genetics 1988-04, Vol.25 (4), p.222-226 |
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| creator | Farrar, G J Geraghty, M T Moloney, J M McConnell, D J Humphries, P |
| description | There is significant evidence for genetic and phenotypic heterogeneity in X linked retinitis pigmentosa (XLRP). We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.28) locus and the XLRP locus (Z = 3.445, theta = 0.00). Combined with the previously published data on British and Danish families, the genetic distance between the DXS7 and XLRP loci is now estimated at 5 cM with a maximum lod score of 13.026 and a 1-lod confidence interval of 0.75 to 9.5 cM. Linkage was also observed between 754 and XLRP (Z = 3.41, theta = 0.00) and between pERT87 and XLRP (Z = 1.37, theta = 0.1). The heterogeneity of XLRP is discussed in relation to these observations. |
| doi_str_mv | 10.1136/jmg.25.4.222 |
| format | Article |
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We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.28) locus and the XLRP locus (Z = 3.445, theta = 0.00). Combined with the previously published data on British and Danish families, the genetic distance between the DXS7 and XLRP loci is now estimated at 5 cM with a maximum lod score of 13.026 and a 1-lod confidence interval of 0.75 to 9.5 cM. Linkage was also observed between 754 and XLRP (Z = 3.41, theta = 0.00) and between pERT87 and XLRP (Z = 1.37, theta = 0.1). The heterogeneity of XLRP is discussed in relation to these observations.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.25.4.222</identifier><identifier>PMID: 3163380</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Biological and medical sciences ; Chromosome Mapping ; Female ; Genetic distance ; Genetic Linkage ; Genetic Markers ; Humans ; Ireland ; Linkage analysis ; Male ; Medical sciences ; Ophthalmology ; Research Article ; Retinitis pigmentosa ; Retinitis Pigmentosa - genetics ; Retinopathies ; X Chromosome</subject><ispartof>Journal of medical genetics, 1988-04, Vol.25 (4), p.222-226</ispartof><rights>1988 INIST-CNRS</rights><rights>Copyright BMJ Publishing Group LTD Apr 1988</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b598t-e36546703fc1b8aa36526627799bacdcf2a9b5c5d8ff032519db283eab6bfe153</citedby><cites>FETCH-LOGICAL-b598t-e36546703fc1b8aa36526627799bacdcf2a9b5c5d8ff032519db283eab6bfe153</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1015500/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1015500/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=7592117$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3163380$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Farrar, G J</creatorcontrib><creatorcontrib>Geraghty, M T</creatorcontrib><creatorcontrib>Moloney, J M</creatorcontrib><creatorcontrib>McConnell, D J</creatorcontrib><creatorcontrib>Humphries, P</creatorcontrib><title>Linkage analysis of X linked retinitis pigmentosa in the Irish population</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><addtitle>J Med Genet</addtitle><description>There is significant evidence for genetic and phenotypic heterogeneity in X linked retinitis pigmentosa (XLRP). We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.28) locus and the XLRP locus (Z = 3.445, theta = 0.00). Combined with the previously published data on British and Danish families, the genetic distance between the DXS7 and XLRP loci is now estimated at 5 cM with a maximum lod score of 13.026 and a 1-lod confidence interval of 0.75 to 9.5 cM. Linkage was also observed between 754 and XLRP (Z = 3.41, theta = 0.00) and between pERT87 and XLRP (Z = 1.37, theta = 0.1). The heterogeneity of XLRP is discussed in relation to these observations.</description><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>Female</subject><subject>Genetic distance</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Humans</subject><subject>Ireland</subject><subject>Linkage analysis</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Ophthalmology</subject><subject>Research Article</subject><subject>Retinitis pigmentosa</subject><subject>Retinitis Pigmentosa - genetics</subject><subject>Retinopathies</subject><subject>X Chromosome</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1988</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1v1DAQxS1EVZbCjStSJBD0QBaPP-MLElpBu-oKegDEzXISZ9fbJA52guh_j6tdbQtC9DSaeT89zcxD6BngOQAVb7fdek74nM0JIQ_QDJgockEYe4hmGBOSE67oI_Q4xi3GQCWIY3RMQVBa4Blarlx_ZdY2M71pr6OLmW-y71mbprbOgh1d78Y0Hdy6s_3oo8lcn40bmy2Di5ts8MPUmtH5_gk6akwb7dN9PUFfP374sjjPV5_Plov3q7zkqhhzSwVnQmLaVFAWxqSWCEGkVKo0VV01xKiSV7wumgZTwkHVJSmoNaUoGwucnqB3O99hKjtbV2mrYFo9BNeZcK29cfpPpXcbvfY_NWDgHONk8GpvEPyPycZRdy5Wtm1Nb_0UtSwIEMHgXhA4ZrhQKoEv_gK3fgrpoVFTLBQwLkXxPwqkxFwCFzdeb3ZUFXyMwTaHywDrm7x1ylsTrplOeSf8-d1vHOB9wEl_uddNrEzbBNNXLh4wyRUBkAnLd5iLo_11kE240kJSyfWnbwt9dgmMXVxeaJb41zu-7Lb3LXh6S94e_C_0NzFr2p0</recordid><startdate>19880401</startdate><enddate>19880401</enddate><creator>Farrar, G J</creator><creator>Geraghty, M T</creator><creator>Moloney, J M</creator><creator>McConnell, D J</creator><creator>Humphries, P</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>K9.</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19880401</creationdate><title>Linkage analysis of X linked retinitis pigmentosa in the Irish population</title><author>Farrar, G J ; Geraghty, M T ; Moloney, J M ; McConnell, D J ; Humphries, P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b598t-e36546703fc1b8aa36526627799bacdcf2a9b5c5d8ff032519db283eab6bfe153</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1988</creationdate><topic>Biological and medical sciences</topic><topic>Chromosome Mapping</topic><topic>Female</topic><topic>Genetic distance</topic><topic>Genetic Linkage</topic><topic>Genetic Markers</topic><topic>Humans</topic><topic>Ireland</topic><topic>Linkage analysis</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Ophthalmology</topic><topic>Research Article</topic><topic>Retinitis pigmentosa</topic><topic>Retinitis Pigmentosa - genetics</topic><topic>Retinopathies</topic><topic>X Chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Farrar, G J</creatorcontrib><creatorcontrib>Geraghty, M T</creatorcontrib><creatorcontrib>Moloney, J M</creatorcontrib><creatorcontrib>McConnell, D J</creatorcontrib><creatorcontrib>Humphries, P</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 Health & Medical Complete (Alumni)</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Farrar, G J</au><au>Geraghty, M T</au><au>Moloney, J M</au><au>McConnell, D J</au><au>Humphries, P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Linkage analysis of X linked retinitis pigmentosa in the Irish population</atitle><jtitle>Journal of medical genetics</jtitle><stitle>J Med Genet</stitle><addtitle>J Med Genet</addtitle><date>1988-04-01</date><risdate>1988</risdate><volume>25</volume><issue>4</issue><spage>222</spage><epage>226</epage><pages>222-226</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>There is significant evidence for genetic and phenotypic heterogeneity in X linked retinitis pigmentosa (XLRP). We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.28) locus and the XLRP locus (Z = 3.445, theta = 0.00). Combined with the previously published data on British and Danish families, the genetic distance between the DXS7 and XLRP loci is now estimated at 5 cM with a maximum lod score of 13.026 and a 1-lod confidence interval of 0.75 to 9.5 cM. Linkage was also observed between 754 and XLRP (Z = 3.41, theta = 0.00) and between pERT87 and XLRP (Z = 1.37, theta = 0.1). The heterogeneity of XLRP is discussed in relation to these observations.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>3163380</pmid><doi>10.1136/jmg.25.4.222</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Biological and medical sciences Chromosome Mapping Female Genetic distance Genetic Linkage Genetic Markers Humans Ireland Linkage analysis Male Medical sciences Ophthalmology Research Article Retinitis pigmentosa Retinitis Pigmentosa - genetics Retinopathies X Chromosome |
| title | Linkage analysis of X linked retinitis pigmentosa in the Irish population |
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