Genetic analysis of eight loci tightly linked to neurofibromatosis 1
The genetic locus for neurofibromatosis 1 (NF1) has recently been mapped to the pericentromeric region of chromosome 17. We have genotyped eight previously identified RFLP probes on 50 NF1 families to determine the placement of the NF1 locus relative to the RFLP loci. Thirty-eight recombination even...
Gespeichert in:
| Veröffentlicht in: | American journal of human genetics 1989-01, Vol.44 (1), p.13-19 |
|---|---|
| Hauptverfasser: | , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 19 |
|---|---|
| container_issue | 1 |
| container_start_page | 13 |
| container_title | American journal of human genetics |
| container_volume | 44 |
| creator | Stephens, K Green, P Riccardi, V M Ng, S Rising, M Barker, D Darby, J K Falls, K M Collins, F S Willard, H F |
| description | The genetic locus for neurofibromatosis 1 (NF1) has recently been mapped to the pericentromeric region of chromosome 17. We have genotyped eight previously identified RFLP probes on 50 NF1 families to determine the placement of the NF1 locus relative to the RFLP loci. Thirty-eight recombination events in the pericentromeric region were identified, eight involving crossovers between NF1 and loci on either chromosomal arm. Multipoint linkage analysis resulted in the unique placement of six loci at odds greater than 100:1 in the order of pter-A10-41-EW301-NF1-EW207-CRI-L581-CRI-L946 -qter. Owing to insufficient crossovers, three loci--D17Z1, EW206, and EW203--could not be uniquely localized. In this region female recombination rates were significantly higher than those of males. These data were part of a joint study aimed at the localization of both NF1 and tightly linked pericentromeric markers for chromosome 17. |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1715471</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>78834865</sourcerecordid><originalsourceid>FETCH-LOGICAL-p207t-62e48846446b32612a56bfcb4a912f8b1bc620ec51cba92142a7249c75eb3b53</originalsourceid><addsrcrecordid>eNqFkE1LAzEQhoMotVZ_gpCTt4VMNh-7F0GqVqHgpfeQpNk2mt3UTVbov3dLi-jJ0wzMOw_PzBmaAi9lIQTh52hKCKFFTWt5ia5SeicEoCLlBE0oq0FKPkWPC9e57C3WnQ775BOODXZ-s804ROtxPrRhj4PvPtwa54g7N_Sx8aaPrc7xsAHX6KLRIbmbU52h1fPTav5SLN8Wr_OHZbGjROZCUMeqignGhCmpAKq5MI01TNdAm8qAsYISZzlYo2sKjGo5ilrJnSkNL2fo_ojdDaZ1a-u63Ougdr1vdb9XUXv1d9L5rdrELwUSOJMwAu5OgD5-Di5l1fpkXQi6c3FISlZVySrB_w0Ch5qNl4zB299KPy6n_5bfpjZ4kQ</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>15194846</pqid></control><display><type>article</type><title>Genetic analysis of eight loci tightly linked to neurofibromatosis 1</title><source>MEDLINE</source><source>Access via ScienceDirect (Elsevier)</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>Stephens, K ; Green, P ; Riccardi, V M ; Ng, S ; Rising, M ; Barker, D ; Darby, J K ; Falls, K M ; Collins, F S ; Willard, H F</creator><creatorcontrib>Stephens, K ; Green, P ; Riccardi, V M ; Ng, S ; Rising, M ; Barker, D ; Darby, J K ; Falls, K M ; Collins, F S ; Willard, H F</creatorcontrib><description>The genetic locus for neurofibromatosis 1 (NF1) has recently been mapped to the pericentromeric region of chromosome 17. We have genotyped eight previously identified RFLP probes on 50 NF1 families to determine the placement of the NF1 locus relative to the RFLP loci. Thirty-eight recombination events in the pericentromeric region were identified, eight involving crossovers between NF1 and loci on either chromosomal arm. Multipoint linkage analysis resulted in the unique placement of six loci at odds greater than 100:1 in the order of pter-A10-41-EW301-NF1-EW207-CRI-L581-CRI-L946 -qter. Owing to insufficient crossovers, three loci--D17Z1, EW206, and EW203--could not be uniquely localized. In this region female recombination rates were significantly higher than those of males. These data were part of a joint study aimed at the localization of both NF1 and tightly linked pericentromeric markers for chromosome 17.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 2491775</identifier><language>eng</language><publisher>United States</publisher><subject>Chromosome Mapping ; Chromosomes, Human, Pair 17 ; Genetic Linkage ; Genetic Markers ; Humans ; Neurofibromatosis 1 - genetics ; Original ; Recombination, Genetic</subject><ispartof>American journal of human genetics, 1989-01, Vol.44 (1), p.13-19</ispartof><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/PMC1715471/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1715471/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,728,781,785,886,53796,53798</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2491775$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Stephens, K</creatorcontrib><creatorcontrib>Green, P</creatorcontrib><creatorcontrib>Riccardi, V M</creatorcontrib><creatorcontrib>Ng, S</creatorcontrib><creatorcontrib>Rising, M</creatorcontrib><creatorcontrib>Barker, D</creatorcontrib><creatorcontrib>Darby, J K</creatorcontrib><creatorcontrib>Falls, K M</creatorcontrib><creatorcontrib>Collins, F S</creatorcontrib><creatorcontrib>Willard, H F</creatorcontrib><title>Genetic analysis of eight loci tightly linked to neurofibromatosis 1</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>The genetic locus for neurofibromatosis 1 (NF1) has recently been mapped to the pericentromeric region of chromosome 17. We have genotyped eight previously identified RFLP probes on 50 NF1 families to determine the placement of the NF1 locus relative to the RFLP loci. Thirty-eight recombination events in the pericentromeric region were identified, eight involving crossovers between NF1 and loci on either chromosomal arm. Multipoint linkage analysis resulted in the unique placement of six loci at odds greater than 100:1 in the order of pter-A10-41-EW301-NF1-EW207-CRI-L581-CRI-L946 -qter. Owing to insufficient crossovers, three loci--D17Z1, EW206, and EW203--could not be uniquely localized. In this region female recombination rates were significantly higher than those of males. These data were part of a joint study aimed at the localization of both NF1 and tightly linked pericentromeric markers for chromosome 17.</description><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 17</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Humans</subject><subject>Neurofibromatosis 1 - genetics</subject><subject>Original</subject><subject>Recombination, Genetic</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>eNqFkE1LAzEQhoMotVZ_gpCTt4VMNh-7F0GqVqHgpfeQpNk2mt3UTVbov3dLi-jJ0wzMOw_PzBmaAi9lIQTh52hKCKFFTWt5ia5SeicEoCLlBE0oq0FKPkWPC9e57C3WnQ775BOODXZ-s804ROtxPrRhj4PvPtwa54g7N_Sx8aaPrc7xsAHX6KLRIbmbU52h1fPTav5SLN8Wr_OHZbGjROZCUMeqignGhCmpAKq5MI01TNdAm8qAsYISZzlYo2sKjGo5ilrJnSkNL2fo_ojdDaZ1a-u63Ougdr1vdb9XUXv1d9L5rdrELwUSOJMwAu5OgD5-Di5l1fpkXQi6c3FISlZVySrB_w0Ch5qNl4zB299KPy6n_5bfpjZ4kQ</recordid><startdate>198901</startdate><enddate>198901</enddate><creator>Stephens, K</creator><creator>Green, P</creator><creator>Riccardi, V M</creator><creator>Ng, S</creator><creator>Rising, M</creator><creator>Barker, D</creator><creator>Darby, J K</creator><creator>Falls, K M</creator><creator>Collins, F S</creator><creator>Willard, H F</creator><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>198901</creationdate><title>Genetic analysis of eight loci tightly linked to neurofibromatosis 1</title><author>Stephens, K ; Green, P ; Riccardi, V M ; Ng, S ; Rising, M ; Barker, D ; Darby, J K ; Falls, K M ; Collins, F S ; Willard, H F</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p207t-62e48846446b32612a56bfcb4a912f8b1bc620ec51cba92142a7249c75eb3b53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1989</creationdate><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 17</topic><topic>Genetic Linkage</topic><topic>Genetic Markers</topic><topic>Humans</topic><topic>Neurofibromatosis 1 - genetics</topic><topic>Original</topic><topic>Recombination, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Stephens, K</creatorcontrib><creatorcontrib>Green, P</creatorcontrib><creatorcontrib>Riccardi, V M</creatorcontrib><creatorcontrib>Ng, S</creatorcontrib><creatorcontrib>Rising, M</creatorcontrib><creatorcontrib>Barker, D</creatorcontrib><creatorcontrib>Darby, J K</creatorcontrib><creatorcontrib>Falls, K M</creatorcontrib><creatorcontrib>Collins, F S</creatorcontrib><creatorcontrib>Willard, H F</creatorcontrib><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>Stephens, K</au><au>Green, P</au><au>Riccardi, V M</au><au>Ng, S</au><au>Rising, M</au><au>Barker, D</au><au>Darby, J K</au><au>Falls, K M</au><au>Collins, F S</au><au>Willard, H F</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic analysis of eight loci tightly linked to neurofibromatosis 1</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1989-01</date><risdate>1989</risdate><volume>44</volume><issue>1</issue><spage>13</spage><epage>19</epage><pages>13-19</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><abstract>The genetic locus for neurofibromatosis 1 (NF1) has recently been mapped to the pericentromeric region of chromosome 17. We have genotyped eight previously identified RFLP probes on 50 NF1 families to determine the placement of the NF1 locus relative to the RFLP loci. Thirty-eight recombination events in the pericentromeric region were identified, eight involving crossovers between NF1 and loci on either chromosomal arm. Multipoint linkage analysis resulted in the unique placement of six loci at odds greater than 100:1 in the order of pter-A10-41-EW301-NF1-EW207-CRI-L581-CRI-L946 -qter. Owing to insufficient crossovers, three loci--D17Z1, EW206, and EW203--could not be uniquely localized. In this region female recombination rates were significantly higher than those of males. These data were part of a joint study aimed at the localization of both NF1 and tightly linked pericentromeric markers for chromosome 17.</abstract><cop>United States</cop><pmid>2491775</pmid><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 1989-01, Vol.44 (1), p.13-19 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1715471 |
| source | MEDLINE; Access via ScienceDirect (Elsevier); EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Chromosome Mapping Chromosomes, Human, Pair 17 Genetic Linkage Genetic Markers Humans Neurofibromatosis 1 - genetics Original Recombination, Genetic |
| title | Genetic analysis of eight loci tightly linked to neurofibromatosis 1 |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-15T00%3A52%3A45IST&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%20analysis%20of%20eight%20loci%20tightly%20linked%20to%20neurofibromatosis%201&rft.jtitle=American%20journal%20of%20human%20genetics&rft.au=Stephens,%20K&rft.date=1989-01&rft.volume=44&rft.issue=1&rft.spage=13&rft.epage=19&rft.pages=13-19&rft.issn=0002-9297&rft.eissn=1537-6605&rft_id=info:doi/&rft_dat=%3Cproquest_pubme%3E78834865%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=15194846&rft_id=info:pmid/2491775&rfr_iscdi=true |