Localization of an ataxia-telangiectasia gene to an ∼500-kb interval on chromosome 11q23.1 : linkage analysis of 176 families by an international consortium
We describe a 20-point linkage analysis map of chromosome 11q22-23 that is based on genotyping 249 families (59 CEPH and 190 A-T). Monte Carlo linkage analyses of 176 ataxia-telangiectasia (A-T) families localizes the major A-T locus to the region between S1819(A4) and S1818(A2). When seven nonlinki...
Gespeichert in:
| Veröffentlicht in: | American journal of human genetics 1995-07, Vol.57 (1), p.112-119 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 119 |
|---|---|
| container_issue | 1 |
| container_start_page | 112 |
| container_title | American journal of human genetics |
| container_volume | 57 |
| creator | LANGE, E BORRESEN, A.-L MCCONVILLE, C POLAKOW, J PORRAS, O ROTMAN, G SANAL, O SHEIKHAVANDI, S SHILOH, Y SOBEL, E TAYLOR, M TELATAR, M XIAOGUANG CHEN TERAOKA, S TOLUN, A UDAR, N UHRHAMMER, N VANAGAITE, L ZHIJUN WANG WAPELHORST, B WRIGHT, J HUAN-MING YANG LAN YANG CHESSA, L ZIV, Y GATTI, R. A SUJATA CHIPLUNKAR CONCANNON, P SUGANDHA DANDEKAR GERKEN, S LANGE, K LIANG, T |
| description | We describe a 20-point linkage analysis map of chromosome 11q22-23 that is based on genotyping 249 families (59 CEPH and 190 A-T). Monte Carlo linkage analyses of 176 ataxia-telangiectasia (A-T) families localizes the major A-T locus to the region between S1819(A4) and S1818(A2). When seven nonlinking families were excluded from subsequent analyses, a 2-lod support interval of ∼500 kb was identified between S1819(A4) and S1294. No recombinants were observed between A-T and markers S384, B7, S535, or S1294. Only 17 of the international consortium families have been assigned to complementation groups. The available evidence favors either a cluster of A-T genes on chromosome 11 or intragenic defects in a single gene. |
| format | Article |
| fullrecord | <record><control><sourceid>pubmedcentral_pasca</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1801232</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>pubmedcentral_primary_oai_pubmedcentral_nih_gov_1801232</sourcerecordid><originalsourceid>FETCH-LOGICAL-p152t-93f4b219a6d06bae481bae2908a407e874e88bc461ddcbafdfc17f4c0354ada23</originalsourceid><addsrcrecordid>eNpV0EtOwzAQAFALgUop3MELtkH-JU5YIKGKn1SJDayjieOkpo5dYreinIBTcBJOw0lIS4XEZmYxM29Gc4DGNOUyyTKSHqIxIYQlBSvkMToJ4YUQSnPCR2gkM0qZLMboc-YVWPMO0XiHfYPBYYjwZiCJ2oJrjVYRggHcaqdx9NuG74-vlJBkUWHjou7XYPEwrOa973zwncaUvjJ-QfEltsYtoNXDFNhNMGG7gsoMN9AZa3TA1WYr7hy3O2LAlHfB99GsulN01IAN-myfJ-j59uZpep_MHu8eptezZElTFpOCN6JitICsJlkFWuR0iKwgOQgidS6FzvNKiYzWtaqgqRtFZSMU4amAGhifoKtfd7mqOl0r7WIPtlz2poN-U3ow5f-KM_Oy9ety-CdlfAuc7wEIw0ObHpwy4Q_gaS64YPwHR_uCTA</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Localization of an ataxia-telangiectasia gene to an ∼500-kb interval on chromosome 11q23.1 : linkage analysis of 176 families by an international consortium</title><source>Cell Press Free Archives</source><source>ScienceDirect Journals (5 years ago - present)</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>LANGE, E ; BORRESEN, A.-L ; MCCONVILLE, C ; POLAKOW, J ; PORRAS, O ; ROTMAN, G ; SANAL, O ; SHEIKHAVANDI, S ; SHILOH, Y ; SOBEL, E ; TAYLOR, M ; TELATAR, M ; XIAOGUANG CHEN ; TERAOKA, S ; TOLUN, A ; UDAR, N ; UHRHAMMER, N ; VANAGAITE, L ; ZHIJUN WANG ; WAPELHORST, B ; WRIGHT, J ; HUAN-MING YANG ; LAN YANG ; CHESSA, L ; ZIV, Y ; GATTI, R. A ; SUJATA CHIPLUNKAR ; CONCANNON, P ; SUGANDHA DANDEKAR ; GERKEN, S ; LANGE, K ; LIANG, T</creator><creatorcontrib>LANGE, E ; BORRESEN, A.-L ; MCCONVILLE, C ; POLAKOW, J ; PORRAS, O ; ROTMAN, G ; SANAL, O ; SHEIKHAVANDI, S ; SHILOH, Y ; SOBEL, E ; TAYLOR, M ; TELATAR, M ; XIAOGUANG CHEN ; TERAOKA, S ; TOLUN, A ; UDAR, N ; UHRHAMMER, N ; VANAGAITE, L ; ZHIJUN WANG ; WAPELHORST, B ; WRIGHT, J ; HUAN-MING YANG ; LAN YANG ; CHESSA, L ; ZIV, Y ; GATTI, R. A ; SUJATA CHIPLUNKAR ; CONCANNON, P ; SUGANDHA DANDEKAR ; GERKEN, S ; LANGE, K ; LIANG, T</creatorcontrib><description>We describe a 20-point linkage analysis map of chromosome 11q22-23 that is based on genotyping 249 families (59 CEPH and 190 A-T). Monte Carlo linkage analyses of 176 ataxia-telangiectasia (A-T) families localizes the major A-T locus to the region between S1819(A4) and S1818(A2). When seven nonlinking families were excluded from subsequent analyses, a 2-lod support interval of ∼500 kb was identified between S1819(A4) and S1294. No recombinants were observed between A-T and markers S384, B7, S535, or S1294. Only 17 of the international consortium families have been assigned to complementation groups. The available evidence favors either a cluster of A-T genes on chromosome 11 or intragenic defects in a single gene.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 7611279</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: University of Chicago Press</publisher><subject>Biological and medical sciences ; Complex syndromes ; Medical genetics ; Medical sciences ; Original</subject><ispartof>American journal of human genetics, 1995-07, Vol.57 (1), p.112-119</ispartof><rights>1995 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801232/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801232/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,53790,53792</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3584342$$DView record in Pascal Francis$$Hfree_for_read</backlink></links><search><creatorcontrib>LANGE, E</creatorcontrib><creatorcontrib>BORRESEN, A.-L</creatorcontrib><creatorcontrib>MCCONVILLE, C</creatorcontrib><creatorcontrib>POLAKOW, J</creatorcontrib><creatorcontrib>PORRAS, O</creatorcontrib><creatorcontrib>ROTMAN, G</creatorcontrib><creatorcontrib>SANAL, O</creatorcontrib><creatorcontrib>SHEIKHAVANDI, S</creatorcontrib><creatorcontrib>SHILOH, Y</creatorcontrib><creatorcontrib>SOBEL, E</creatorcontrib><creatorcontrib>TAYLOR, M</creatorcontrib><creatorcontrib>TELATAR, M</creatorcontrib><creatorcontrib>XIAOGUANG CHEN</creatorcontrib><creatorcontrib>TERAOKA, S</creatorcontrib><creatorcontrib>TOLUN, A</creatorcontrib><creatorcontrib>UDAR, N</creatorcontrib><creatorcontrib>UHRHAMMER, N</creatorcontrib><creatorcontrib>VANAGAITE, L</creatorcontrib><creatorcontrib>ZHIJUN WANG</creatorcontrib><creatorcontrib>WAPELHORST, B</creatorcontrib><creatorcontrib>WRIGHT, J</creatorcontrib><creatorcontrib>HUAN-MING YANG</creatorcontrib><creatorcontrib>LAN YANG</creatorcontrib><creatorcontrib>CHESSA, L</creatorcontrib><creatorcontrib>ZIV, Y</creatorcontrib><creatorcontrib>GATTI, R. A</creatorcontrib><creatorcontrib>SUJATA CHIPLUNKAR</creatorcontrib><creatorcontrib>CONCANNON, P</creatorcontrib><creatorcontrib>SUGANDHA DANDEKAR</creatorcontrib><creatorcontrib>GERKEN, S</creatorcontrib><creatorcontrib>LANGE, K</creatorcontrib><creatorcontrib>LIANG, T</creatorcontrib><title>Localization of an ataxia-telangiectasia gene to an ∼500-kb interval on chromosome 11q23.1 : linkage analysis of 176 families by an international consortium</title><title>American journal of human genetics</title><description>We describe a 20-point linkage analysis map of chromosome 11q22-23 that is based on genotyping 249 families (59 CEPH and 190 A-T). Monte Carlo linkage analyses of 176 ataxia-telangiectasia (A-T) families localizes the major A-T locus to the region between S1819(A4) and S1818(A2). When seven nonlinking families were excluded from subsequent analyses, a 2-lod support interval of ∼500 kb was identified between S1819(A4) and S1294. No recombinants were observed between A-T and markers S384, B7, S535, or S1294. Only 17 of the international consortium families have been assigned to complementation groups. The available evidence favors either a cluster of A-T genes on chromosome 11 or intragenic defects in a single gene.</description><subject>Biological and medical sciences</subject><subject>Complex syndromes</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Original</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><recordid>eNpV0EtOwzAQAFALgUop3MELtkH-JU5YIKGKn1SJDayjieOkpo5dYreinIBTcBJOw0lIS4XEZmYxM29Gc4DGNOUyyTKSHqIxIYQlBSvkMToJ4YUQSnPCR2gkM0qZLMboc-YVWPMO0XiHfYPBYYjwZiCJ2oJrjVYRggHcaqdx9NuG74-vlJBkUWHjou7XYPEwrOa973zwncaUvjJ-QfEltsYtoNXDFNhNMGG7gsoMN9AZa3TA1WYr7hy3O2LAlHfB99GsulN01IAN-myfJ-j59uZpep_MHu8eptezZElTFpOCN6JitICsJlkFWuR0iKwgOQgidS6FzvNKiYzWtaqgqRtFZSMU4amAGhifoKtfd7mqOl0r7WIPtlz2poN-U3ow5f-KM_Oy9ety-CdlfAuc7wEIw0ObHpwy4Q_gaS64YPwHR_uCTA</recordid><startdate>19950701</startdate><enddate>19950701</enddate><creator>LANGE, E</creator><creator>BORRESEN, A.-L</creator><creator>MCCONVILLE, C</creator><creator>POLAKOW, J</creator><creator>PORRAS, O</creator><creator>ROTMAN, G</creator><creator>SANAL, O</creator><creator>SHEIKHAVANDI, S</creator><creator>SHILOH, Y</creator><creator>SOBEL, E</creator><creator>TAYLOR, M</creator><creator>TELATAR, M</creator><creator>XIAOGUANG CHEN</creator><creator>TERAOKA, S</creator><creator>TOLUN, A</creator><creator>UDAR, N</creator><creator>UHRHAMMER, N</creator><creator>VANAGAITE, L</creator><creator>ZHIJUN WANG</creator><creator>WAPELHORST, B</creator><creator>WRIGHT, J</creator><creator>HUAN-MING YANG</creator><creator>LAN YANG</creator><creator>CHESSA, L</creator><creator>ZIV, Y</creator><creator>GATTI, R. A</creator><creator>SUJATA CHIPLUNKAR</creator><creator>CONCANNON, P</creator><creator>SUGANDHA DANDEKAR</creator><creator>GERKEN, S</creator><creator>LANGE, K</creator><creator>LIANG, T</creator><general>University of Chicago Press</general><scope>IQODW</scope><scope>5PM</scope></search><sort><creationdate>19950701</creationdate><title>Localization of an ataxia-telangiectasia gene to an ∼500-kb interval on chromosome 11q23.1 : linkage analysis of 176 families by an international consortium</title><author>LANGE, E ; BORRESEN, A.-L ; MCCONVILLE, C ; POLAKOW, J ; PORRAS, O ; ROTMAN, G ; SANAL, O ; SHEIKHAVANDI, S ; SHILOH, Y ; SOBEL, E ; TAYLOR, M ; TELATAR, M ; XIAOGUANG CHEN ; TERAOKA, S ; TOLUN, A ; UDAR, N ; UHRHAMMER, N ; VANAGAITE, L ; ZHIJUN WANG ; WAPELHORST, B ; WRIGHT, J ; HUAN-MING YANG ; LAN YANG ; CHESSA, L ; ZIV, Y ; GATTI, R. A ; SUJATA CHIPLUNKAR ; CONCANNON, P ; SUGANDHA DANDEKAR ; GERKEN, S ; LANGE, K ; LIANG, T</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p152t-93f4b219a6d06bae481bae2908a407e874e88bc461ddcbafdfc17f4c0354ada23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Biological and medical sciences</topic><topic>Complex syndromes</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Original</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>LANGE, E</creatorcontrib><creatorcontrib>BORRESEN, A.-L</creatorcontrib><creatorcontrib>MCCONVILLE, C</creatorcontrib><creatorcontrib>POLAKOW, J</creatorcontrib><creatorcontrib>PORRAS, O</creatorcontrib><creatorcontrib>ROTMAN, G</creatorcontrib><creatorcontrib>SANAL, O</creatorcontrib><creatorcontrib>SHEIKHAVANDI, S</creatorcontrib><creatorcontrib>SHILOH, Y</creatorcontrib><creatorcontrib>SOBEL, E</creatorcontrib><creatorcontrib>TAYLOR, M</creatorcontrib><creatorcontrib>TELATAR, M</creatorcontrib><creatorcontrib>XIAOGUANG CHEN</creatorcontrib><creatorcontrib>TERAOKA, S</creatorcontrib><creatorcontrib>TOLUN, A</creatorcontrib><creatorcontrib>UDAR, N</creatorcontrib><creatorcontrib>UHRHAMMER, N</creatorcontrib><creatorcontrib>VANAGAITE, L</creatorcontrib><creatorcontrib>ZHIJUN WANG</creatorcontrib><creatorcontrib>WAPELHORST, B</creatorcontrib><creatorcontrib>WRIGHT, J</creatorcontrib><creatorcontrib>HUAN-MING YANG</creatorcontrib><creatorcontrib>LAN YANG</creatorcontrib><creatorcontrib>CHESSA, L</creatorcontrib><creatorcontrib>ZIV, Y</creatorcontrib><creatorcontrib>GATTI, R. A</creatorcontrib><creatorcontrib>SUJATA CHIPLUNKAR</creatorcontrib><creatorcontrib>CONCANNON, P</creatorcontrib><creatorcontrib>SUGANDHA DANDEKAR</creatorcontrib><creatorcontrib>GERKEN, S</creatorcontrib><creatorcontrib>LANGE, K</creatorcontrib><creatorcontrib>LIANG, T</creatorcontrib><collection>Pascal-Francis</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>LANGE, E</au><au>BORRESEN, A.-L</au><au>MCCONVILLE, C</au><au>POLAKOW, J</au><au>PORRAS, O</au><au>ROTMAN, G</au><au>SANAL, O</au><au>SHEIKHAVANDI, S</au><au>SHILOH, Y</au><au>SOBEL, E</au><au>TAYLOR, M</au><au>TELATAR, M</au><au>XIAOGUANG CHEN</au><au>TERAOKA, S</au><au>TOLUN, A</au><au>UDAR, N</au><au>UHRHAMMER, N</au><au>VANAGAITE, L</au><au>ZHIJUN WANG</au><au>WAPELHORST, B</au><au>WRIGHT, J</au><au>HUAN-MING YANG</au><au>LAN YANG</au><au>CHESSA, L</au><au>ZIV, Y</au><au>GATTI, R. A</au><au>SUJATA CHIPLUNKAR</au><au>CONCANNON, P</au><au>SUGANDHA DANDEKAR</au><au>GERKEN, S</au><au>LANGE, K</au><au>LIANG, T</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Localization of an ataxia-telangiectasia gene to an ∼500-kb interval on chromosome 11q23.1 : linkage analysis of 176 families by an international consortium</atitle><jtitle>American journal of human genetics</jtitle><date>1995-07-01</date><risdate>1995</risdate><volume>57</volume><issue>1</issue><spage>112</spage><epage>119</epage><pages>112-119</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>We describe a 20-point linkage analysis map of chromosome 11q22-23 that is based on genotyping 249 families (59 CEPH and 190 A-T). Monte Carlo linkage analyses of 176 ataxia-telangiectasia (A-T) families localizes the major A-T locus to the region between S1819(A4) and S1818(A2). When seven nonlinking families were excluded from subsequent analyses, a 2-lod support interval of ∼500 kb was identified between S1819(A4) and S1294. No recombinants were observed between A-T and markers S384, B7, S535, or S1294. Only 17 of the international consortium families have been assigned to complementation groups. The available evidence favors either a cluster of A-T genes on chromosome 11 or intragenic defects in a single gene.</abstract><cop>Chicago, IL</cop><pub>University of Chicago Press</pub><pmid>7611279</pmid><tpages>8</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 1995-07, Vol.57 (1), p.112-119 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1801232 |
| source | Cell Press Free Archives; ScienceDirect Journals (5 years ago - present); EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Biological and medical sciences Complex syndromes Medical genetics Medical sciences Original |
| title | Localization of an ataxia-telangiectasia gene to an ∼500-kb interval on chromosome 11q23.1 : linkage analysis of 176 families by an international consortium |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-08T21%3A16%3A56IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-pubmedcentral_pasca&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Localization%20of%20an%20ataxia-telangiectasia%20gene%20to%20an%20%E2%88%BC500-kb%20interval%20on%20chromosome%2011q23.1%20:%20linkage%20analysis%20of%20176%20families%20by%20an%20international%20consortium&rft.jtitle=American%20journal%20of%20human%20genetics&rft.au=LANGE,%20E&rft.date=1995-07-01&rft.volume=57&rft.issue=1&rft.spage=112&rft.epage=119&rft.pages=112-119&rft.issn=0002-9297&rft.eissn=1537-6605&rft.coden=AJHGAG&rft_id=info:doi/&rft_dat=%3Cpubmedcentral_pasca%3Epubmedcentral_primary_oai_pubmedcentral_nih_gov_1801232%3C/pubmedcentral_pasca%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/7611279&rfr_iscdi=true |