Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p
Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive disorder discovered recently from an isolated region in Finland. The disorder is characterized by normal early development, generalized tonic-clonic seizures with onset at 5-10 years of age, and progressive mental retardat...
Gespeichert in:
| Veröffentlicht in: | Genome research 1996-05, Vol.6 (5), p.351-360 |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 360 |
|---|---|
| container_issue | 5 |
| container_start_page | 351 |
| container_title | Genome research |
| container_volume | 6 |
| creator | Ranta, S Lehesjoki, A E Hirvasniemi, A Weissenbach, J Ross, B Leal, S M de la Chapelle, A Gilliam, T C |
| description | Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive disorder discovered recently from an isolated region in Finland. The disorder is characterized by normal early development, generalized tonic-clonic seizures with onset at 5-10 years of age, and progressive mental retardation beginning 2-5 years after the onset of seizures. We recently mapped the EPMR locus to a 7-cM region on chromosome 8p between markers AFM185xb2 and D8S262. A recombination detected with a new microsatellite marker AFMa054td9 narrows the region to 4 cM. A yeast artificial chromosome (YAC) contig containing 22 YACs was constructed across the disease gene region. The YAC contig is characterized by a collection of 19 YAC-end sequence-tag sites together with seven microsatellite markers. The entire YAC contig spans a minimum of 3 Mb. Moreover, the distal end of the contig contains a subtelomeric YAC yRM2205 that anchors the contig to the telomere. Construction of a YAC contig across the disease gene region is an essential step toward the isolation of the EPMR gene. |
| doi_str_mv | 10.1101/gr.6.5.351 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6145179</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>78230738</sourcerecordid><originalsourceid>FETCH-LOGICAL-c404t-7cce4caed02184e17c99860bc5ef87c6a74e4f217625540d6b9bed67f5aa4f1c3</originalsourceid><addsrcrecordid>eNqFkU1r3DAQhkVo2Hw0l94LOpWk4K201pcvgRC220BCQmnPQiuPbQXbUiTvhv33UckS0lNOM8M8vDzwIvSFkjmlhP5o41zM-bzk9AAdU86qgjNRfco7UaqoCKdH6CSlR0JIyZSaoZmSrKyUOEbjCkaYnMVmrHHodslZ0-PBhODGFvsGTx3gEH0bISW3BQzB9RDSDj-7qcMDjFPmI0wm1mZyfsTny4e73xe493aTcL5tF_3gkx8Aq_AZHTamT3C2n6fo78_ln-tfxe396ub66rawjLCpkNYCswZqsqCKAZW2yrZkbTk0SlphJAPWLKgUC84ZqcW6WkMtZMONYQ215Sm6fM0Nm_UAtc2a0fQ6RDeYuNPeOP3_Z3Sdbv1WC8o4lVUO-LYPiP5pA2nSg0sW-t6M4DdJS7UoiSzVhyCVuYOS8wx-fwVt9ClFaN5sKNH_atRt1EJznWvM8Nf3_m_ovrfyBezvmxY</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>17088355</pqid></control><display><type>article</type><title>Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p</title><source>MEDLINE</source><source>Alma/SFX Local Collection</source><creator>Ranta, S ; Lehesjoki, A E ; Hirvasniemi, A ; Weissenbach, J ; Ross, B ; Leal, S M ; de la Chapelle, A ; Gilliam, T C</creator><creatorcontrib>Ranta, S ; Lehesjoki, A E ; Hirvasniemi, A ; Weissenbach, J ; Ross, B ; Leal, S M ; de la Chapelle, A ; Gilliam, T C</creatorcontrib><description>Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive disorder discovered recently from an isolated region in Finland. The disorder is characterized by normal early development, generalized tonic-clonic seizures with onset at 5-10 years of age, and progressive mental retardation beginning 2-5 years after the onset of seizures. We recently mapped the EPMR locus to a 7-cM region on chromosome 8p between markers AFM185xb2 and D8S262. A recombination detected with a new microsatellite marker AFMa054td9 narrows the region to 4 cM. A yeast artificial chromosome (YAC) contig containing 22 YACs was constructed across the disease gene region. The YAC contig is characterized by a collection of 19 YAC-end sequence-tag sites together with seven microsatellite markers. The entire YAC contig spans a minimum of 3 Mb. Moreover, the distal end of the contig contains a subtelomeric YAC yRM2205 that anchors the contig to the telomere. Construction of a YAC contig across the disease gene region is an essential step toward the isolation of the EPMR gene.</description><identifier>ISSN: 1088-9051</identifier><identifier>ISSN: 1054-9803</identifier><identifier>EISSN: 1549-5469</identifier><identifier>DOI: 10.1101/gr.6.5.351</identifier><identifier>PMID: 8743986</identifier><language>eng</language><publisher>United States</publisher><subject>Chromosome Mapping ; Chromosomes, Artificial, Yeast - chemistry ; Chromosomes, Artificial, Yeast - metabolism ; Chromosomes, Human, Pair 8 ; DNA Primers - metabolism ; Epilepsy - complications ; Epilepsy - genetics ; Female ; Genetic Linkage ; Genetic Markers ; Genomic Library ; Genotype ; Humans ; Intellectual Disability - complications ; Intellectual Disability - genetics ; Male ; Microsatellite Repeats ; Pedigree</subject><ispartof>Genome research, 1996-05, Vol.6 (5), p.351-360</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c404t-7cce4caed02184e17c99860bc5ef87c6a74e4f217625540d6b9bed67f5aa4f1c3</citedby><cites>FETCH-LOGICAL-c404t-7cce4caed02184e17c99860bc5ef87c6a74e4f217625540d6b9bed67f5aa4f1c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8743986$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ranta, S</creatorcontrib><creatorcontrib>Lehesjoki, A E</creatorcontrib><creatorcontrib>Hirvasniemi, A</creatorcontrib><creatorcontrib>Weissenbach, J</creatorcontrib><creatorcontrib>Ross, B</creatorcontrib><creatorcontrib>Leal, S M</creatorcontrib><creatorcontrib>de la Chapelle, A</creatorcontrib><creatorcontrib>Gilliam, T C</creatorcontrib><title>Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p</title><title>Genome research</title><addtitle>Genome Res</addtitle><description>Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive disorder discovered recently from an isolated region in Finland. The disorder is characterized by normal early development, generalized tonic-clonic seizures with onset at 5-10 years of age, and progressive mental retardation beginning 2-5 years after the onset of seizures. We recently mapped the EPMR locus to a 7-cM region on chromosome 8p between markers AFM185xb2 and D8S262. A recombination detected with a new microsatellite marker AFMa054td9 narrows the region to 4 cM. A yeast artificial chromosome (YAC) contig containing 22 YACs was constructed across the disease gene region. The YAC contig is characterized by a collection of 19 YAC-end sequence-tag sites together with seven microsatellite markers. The entire YAC contig spans a minimum of 3 Mb. Moreover, the distal end of the contig contains a subtelomeric YAC yRM2205 that anchors the contig to the telomere. Construction of a YAC contig across the disease gene region is an essential step toward the isolation of the EPMR gene.</description><subject>Chromosome Mapping</subject><subject>Chromosomes, Artificial, Yeast - chemistry</subject><subject>Chromosomes, Artificial, Yeast - metabolism</subject><subject>Chromosomes, Human, Pair 8</subject><subject>DNA Primers - metabolism</subject><subject>Epilepsy - complications</subject><subject>Epilepsy - genetics</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Genomic Library</subject><subject>Genotype</subject><subject>Humans</subject><subject>Intellectual Disability - complications</subject><subject>Intellectual Disability - genetics</subject><subject>Male</subject><subject>Microsatellite Repeats</subject><subject>Pedigree</subject><issn>1088-9051</issn><issn>1054-9803</issn><issn>1549-5469</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1r3DAQhkVo2Hw0l94LOpWk4K201pcvgRC220BCQmnPQiuPbQXbUiTvhv33UckS0lNOM8M8vDzwIvSFkjmlhP5o41zM-bzk9AAdU86qgjNRfco7UaqoCKdH6CSlR0JIyZSaoZmSrKyUOEbjCkaYnMVmrHHodslZ0-PBhODGFvsGTx3gEH0bISW3BQzB9RDSDj-7qcMDjFPmI0wm1mZyfsTny4e73xe493aTcL5tF_3gkx8Aq_AZHTamT3C2n6fo78_ln-tfxe396ub66rawjLCpkNYCswZqsqCKAZW2yrZkbTk0SlphJAPWLKgUC84ZqcW6WkMtZMONYQ215Sm6fM0Nm_UAtc2a0fQ6RDeYuNPeOP3_Z3Sdbv1WC8o4lVUO-LYPiP5pA2nSg0sW-t6M4DdJS7UoiSzVhyCVuYOS8wx-fwVt9ClFaN5sKNH_atRt1EJznWvM8Nf3_m_ovrfyBezvmxY</recordid><startdate>19960501</startdate><enddate>19960501</enddate><creator>Ranta, S</creator><creator>Lehesjoki, A E</creator><creator>Hirvasniemi, A</creator><creator>Weissenbach, J</creator><creator>Ross, B</creator><creator>Leal, S M</creator><creator>de la Chapelle, A</creator><creator>Gilliam, T C</creator><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19960501</creationdate><title>Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p</title><author>Ranta, S ; Lehesjoki, A E ; Hirvasniemi, A ; Weissenbach, J ; Ross, B ; Leal, S M ; de la Chapelle, A ; Gilliam, T C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c404t-7cce4caed02184e17c99860bc5ef87c6a74e4f217625540d6b9bed67f5aa4f1c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Chromosome Mapping</topic><topic>Chromosomes, Artificial, Yeast - chemistry</topic><topic>Chromosomes, Artificial, Yeast - metabolism</topic><topic>Chromosomes, Human, Pair 8</topic><topic>DNA Primers - metabolism</topic><topic>Epilepsy - complications</topic><topic>Epilepsy - genetics</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Genetic Markers</topic><topic>Genomic Library</topic><topic>Genotype</topic><topic>Humans</topic><topic>Intellectual Disability - complications</topic><topic>Intellectual Disability - genetics</topic><topic>Male</topic><topic>Microsatellite Repeats</topic><topic>Pedigree</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ranta, S</creatorcontrib><creatorcontrib>Lehesjoki, A E</creatorcontrib><creatorcontrib>Hirvasniemi, A</creatorcontrib><creatorcontrib>Weissenbach, J</creatorcontrib><creatorcontrib>Ross, B</creatorcontrib><creatorcontrib>Leal, S M</creatorcontrib><creatorcontrib>de la Chapelle, A</creatorcontrib><creatorcontrib>Gilliam, T C</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</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>Genome research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ranta, S</au><au>Lehesjoki, A E</au><au>Hirvasniemi, A</au><au>Weissenbach, J</au><au>Ross, B</au><au>Leal, S M</au><au>de la Chapelle, A</au><au>Gilliam, T C</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p</atitle><jtitle>Genome research</jtitle><addtitle>Genome Res</addtitle><date>1996-05-01</date><risdate>1996</risdate><volume>6</volume><issue>5</issue><spage>351</spage><epage>360</epage><pages>351-360</pages><issn>1088-9051</issn><issn>1054-9803</issn><eissn>1549-5469</eissn><abstract>Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive disorder discovered recently from an isolated region in Finland. The disorder is characterized by normal early development, generalized tonic-clonic seizures with onset at 5-10 years of age, and progressive mental retardation beginning 2-5 years after the onset of seizures. We recently mapped the EPMR locus to a 7-cM region on chromosome 8p between markers AFM185xb2 and D8S262. A recombination detected with a new microsatellite marker AFMa054td9 narrows the region to 4 cM. A yeast artificial chromosome (YAC) contig containing 22 YACs was constructed across the disease gene region. The YAC contig is characterized by a collection of 19 YAC-end sequence-tag sites together with seven microsatellite markers. The entire YAC contig spans a minimum of 3 Mb. Moreover, the distal end of the contig contains a subtelomeric YAC yRM2205 that anchors the contig to the telomere. Construction of a YAC contig across the disease gene region is an essential step toward the isolation of the EPMR gene.</abstract><cop>United States</cop><pmid>8743986</pmid><doi>10.1101/gr.6.5.351</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1088-9051 |
| ispartof | Genome research, 1996-05, Vol.6 (5), p.351-360 |
| issn | 1088-9051 1054-9803 1549-5469 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6145179 |
| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Chromosome Mapping Chromosomes, Artificial, Yeast - chemistry Chromosomes, Artificial, Yeast - metabolism Chromosomes, Human, Pair 8 DNA Primers - metabolism Epilepsy - complications Epilepsy - genetics Female Genetic Linkage Genetic Markers Genomic Library Genotype Humans Intellectual Disability - complications Intellectual Disability - genetics Male Microsatellite Repeats Pedigree |
| title | Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-05T11%3A42%3A07IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Genetic%20and%20physical%20mapping%20of%20the%20progressive%20epilepsy%20with%20mental%20retardation%20(EPMR)%20locus%20on%20chromosome%208p&rft.jtitle=Genome%20research&rft.au=Ranta,%20S&rft.date=1996-05-01&rft.volume=6&rft.issue=5&rft.spage=351&rft.epage=360&rft.pages=351-360&rft.issn=1088-9051&rft.eissn=1549-5469&rft_id=info:doi/10.1101/gr.6.5.351&rft_dat=%3Cproquest_pubme%3E78230738%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=17088355&rft_id=info:pmid/8743986&rfr_iscdi=true |