A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene
The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analyses of NF1 by using 10 polymorphic DNA markers from this chromosomal region. We ascertained 20 American Caucasian NF1 families (163 individuals, 98 NF1 affect...
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| Veröffentlicht in: | American journal of human genetics 1989, Vol.44 (1), p.33-37 |
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| creator | DIEHL, S. R BOEHNKE, M O'CONNELL, P COLLINS, F. S ERICKSON, R. P PLOUGHMAN, L. M SEILER, K. A LIEBERMAN, J. L CLARKE, H. B BRUCE, M. A SCHORRY, E. K PERICAK-VANCE, M |
| description | The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analyses of NF1 by using 10 polymorphic DNA markers from this chromosomal region. We ascertained 20 American Caucasian NF1 families (163 individuals, 98 NF1 affected) in Michigan and Ohio and also studied a large family ascertained primarily in North Carolina. The following markers were used in this study: HHH202, TH17.19, D17Z1, ERBA1, EW203, EW206, EW207, EW301, CRI-L581, and CRI-L946. NF1 did not recombine with either TH17.19 or HHH202 in any of the informative meioses surveyed (maximum lod scores of 17.04 and 7.21, respectively, at a recombination fraction of .00), indicating that these markers map very close to the NF1 gene. We also report evidence of three instances of recombination between NF1 and the centromeric marker D17Z1 (maximum lod score of 13.43 at a recombination fraction of .04), as well as two crossovers between pairs of marker loci. We find no evidence of locus heterogeneity, and our results support the localization of the NF1 gene to proximal chromosome 17q. |
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R ; BOEHNKE, M ; O'CONNELL, P ; COLLINS, F. S ; ERICKSON, R. P ; PLOUGHMAN, L. M ; SEILER, K. A ; LIEBERMAN, J. L ; CLARKE, H. B ; BRUCE, M. A ; SCHORRY, E. K ; PERICAK-VANCE, M</creator><creatorcontrib>DIEHL, S. R ; BOEHNKE, M ; O'CONNELL, P ; COLLINS, F. S ; ERICKSON, R. P ; PLOUGHMAN, L. M ; SEILER, K. A ; LIEBERMAN, J. L ; CLARKE, H. B ; BRUCE, M. A ; SCHORRY, E. K ; PERICAK-VANCE, M</creatorcontrib><description>The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analyses of NF1 by using 10 polymorphic DNA markers from this chromosomal region. We ascertained 20 American Caucasian NF1 families (163 individuals, 98 NF1 affected) in Michigan and Ohio and also studied a large family ascertained primarily in North Carolina. The following markers were used in this study: HHH202, TH17.19, D17Z1, ERBA1, EW203, EW206, EW207, EW301, CRI-L581, and CRI-L946. NF1 did not recombine with either TH17.19 or HHH202 in any of the informative meioses surveyed (maximum lod scores of 17.04 and 7.21, respectively, at a recombination fraction of .00), indicating that these markers map very close to the NF1 gene. We also report evidence of three instances of recombination between NF1 and the centromeric marker D17Z1 (maximum lod score of 13.43 at a recombination fraction of .04), as well as two crossovers between pairs of marker loci. We find no evidence of locus heterogeneity, and our results support the localization of the NF1 gene to proximal chromosome 17q.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 2491779</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: University of Chicago Press</publisher><subject>Biological and medical sciences ; Chromosome Mapping ; Chromosomes, Human, Pair 17 ; Female ; Genetic Linkage ; Genetic Markers ; Humans ; Male ; Medical sciences ; Neurofibromatosis 1 - genetics ; Neurology ; Original ; Recombination, Genetic ; Tumors of the nervous system. Phacomatoses</subject><ispartof>American journal of human genetics, 1989, Vol.44 (1), p.33-37</ispartof><rights>1991 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/PMC1715450/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1715450/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,4024,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19719218$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2491779$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>DIEHL, S. R</creatorcontrib><creatorcontrib>BOEHNKE, M</creatorcontrib><creatorcontrib>O'CONNELL, P</creatorcontrib><creatorcontrib>COLLINS, F. S</creatorcontrib><creatorcontrib>ERICKSON, R. P</creatorcontrib><creatorcontrib>PLOUGHMAN, L. M</creatorcontrib><creatorcontrib>SEILER, K. A</creatorcontrib><creatorcontrib>LIEBERMAN, J. L</creatorcontrib><creatorcontrib>CLARKE, H. B</creatorcontrib><creatorcontrib>BRUCE, M. A</creatorcontrib><creatorcontrib>SCHORRY, E. K</creatorcontrib><creatorcontrib>PERICAK-VANCE, M</creatorcontrib><title>A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analyses of NF1 by using 10 polymorphic DNA markers from this chromosomal region. We ascertained 20 American Caucasian NF1 families (163 individuals, 98 NF1 affected) in Michigan and Ohio and also studied a large family ascertained primarily in North Carolina. The following markers were used in this study: HHH202, TH17.19, D17Z1, ERBA1, EW203, EW206, EW207, EW301, CRI-L581, and CRI-L946. NF1 did not recombine with either TH17.19 or HHH202 in any of the informative meioses surveyed (maximum lod scores of 17.04 and 7.21, respectively, at a recombination fraction of .00), indicating that these markers map very close to the NF1 gene. We also report evidence of three instances of recombination between NF1 and the centromeric marker D17Z1 (maximum lod score of 13.43 at a recombination fraction of .04), as well as two crossovers between pairs of marker loci. We find no evidence of locus heterogeneity, and our results support the localization of the NF1 gene to proximal chromosome 17q.</description><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 17</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Neurofibromatosis 1 - genetics</subject><subject>Neurology</subject><subject>Original</subject><subject>Recombination, Genetic</subject><subject>Tumors of the nervous system. Phacomatoses</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1989</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkdFLwzAQxosoc07_BCEvij4UcsnaNC_CGE4FURB9Lml2XaNtUpN24H9vN8fQJ_Ny5L7ffffBHURjSLiI05Qmh9GYUspiyaQ4jk5CeKcUIKN8FI3YVIIQchx1M-KxNBaXZIUWO6NJo1riStJVOEgr4-zmpyvvGhdcgwQECb33rrdLY1dbbj1AL6g_6qFRqT6gJRZ770pTDGOqc8EEcvW0gOvtltPoqFR1wLNdnURvi9vX-X38-Hz3MJ89xi1nrIs1Q5ZAASwVGpBzOSSmKKRKMygplalIMykVLQoq1fAKyBCnGdcl45AWnE-imx_fti8aXGq0nVd13nrTKP-VO2Xyv4o1Vb5y6xwEJNOEDgaXOwPvPnsMXd6YoLGulUXXh1xkGWcCxL8gJCAhhY3j-e9I-yy7gwz6xU5XQau69MpqE_YYSAGSQca_Ad-9li0</recordid><startdate>1989</startdate><enddate>1989</enddate><creator>DIEHL, S. R</creator><creator>BOEHNKE, M</creator><creator>O'CONNELL, P</creator><creator>COLLINS, F. S</creator><creator>ERICKSON, R. P</creator><creator>PLOUGHMAN, L. M</creator><creator>SEILER, K. A</creator><creator>LIEBERMAN, J. L</creator><creator>CLARKE, H. B</creator><creator>BRUCE, M. A</creator><creator>SCHORRY, E. K</creator><creator>PERICAK-VANCE, M</creator><general>University of Chicago Press</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>1989</creationdate><title>A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene</title><author>DIEHL, S. R ; BOEHNKE, M ; O'CONNELL, P ; COLLINS, F. S ; ERICKSON, R. P ; PLOUGHMAN, L. M ; SEILER, K. A ; LIEBERMAN, J. L ; CLARKE, H. B ; BRUCE, M. A ; SCHORRY, E. K ; PERICAK-VANCE, M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p322t-c2e251b1267c1e3397790e79a681f009676899a0bb09aaaab18ee483cf2316b33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1989</creationdate><topic>Biological and medical sciences</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 17</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Genetic Markers</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Neurofibromatosis 1 - genetics</topic><topic>Neurology</topic><topic>Original</topic><topic>Recombination, Genetic</topic><topic>Tumors of the nervous system. Phacomatoses</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>DIEHL, S. R</creatorcontrib><creatorcontrib>BOEHNKE, M</creatorcontrib><creatorcontrib>O'CONNELL, P</creatorcontrib><creatorcontrib>COLLINS, F. S</creatorcontrib><creatorcontrib>ERICKSON, R. P</creatorcontrib><creatorcontrib>PLOUGHMAN, L. M</creatorcontrib><creatorcontrib>SEILER, K. A</creatorcontrib><creatorcontrib>LIEBERMAN, J. L</creatorcontrib><creatorcontrib>CLARKE, H. B</creatorcontrib><creatorcontrib>BRUCE, M. A</creatorcontrib><creatorcontrib>SCHORRY, E. K</creatorcontrib><creatorcontrib>PERICAK-VANCE, M</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</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>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>DIEHL, S. R</au><au>BOEHNKE, M</au><au>O'CONNELL, P</au><au>COLLINS, F. S</au><au>ERICKSON, R. P</au><au>PLOUGHMAN, L. M</au><au>SEILER, K. A</au><au>LIEBERMAN, J. L</au><au>CLARKE, H. B</au><au>BRUCE, M. A</au><au>SCHORRY, E. K</au><au>PERICAK-VANCE, M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1989</date><risdate>1989</risdate><volume>44</volume><issue>1</issue><spage>33</spage><epage>37</epage><pages>33-37</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analyses of NF1 by using 10 polymorphic DNA markers from this chromosomal region. We ascertained 20 American Caucasian NF1 families (163 individuals, 98 NF1 affected) in Michigan and Ohio and also studied a large family ascertained primarily in North Carolina. The following markers were used in this study: HHH202, TH17.19, D17Z1, ERBA1, EW203, EW206, EW207, EW301, CRI-L581, and CRI-L946. NF1 did not recombine with either TH17.19 or HHH202 in any of the informative meioses surveyed (maximum lod scores of 17.04 and 7.21, respectively, at a recombination fraction of .00), indicating that these markers map very close to the NF1 gene. We also report evidence of three instances of recombination between NF1 and the centromeric marker D17Z1 (maximum lod score of 13.43 at a recombination fraction of .04), as well as two crossovers between pairs of marker loci. We find no evidence of locus heterogeneity, and our results support the localization of the NF1 gene to proximal chromosome 17q.</abstract><cop>Chicago, IL</cop><pub>University of Chicago Press</pub><pmid>2491779</pmid><tpages>5</tpages></addata></record> |
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| subjects | Biological and medical sciences Chromosome Mapping Chromosomes, Human, Pair 17 Female Genetic Linkage Genetic Markers Humans Male Medical sciences Neurofibromatosis 1 - genetics Neurology Original Recombination, Genetic Tumors of the nervous system. Phacomatoses |
| title | A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene |
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