Mapping of epidermolysis bullosa simplex mutation to chromosome 12
Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to...
Gespeichert in:
| Veröffentlicht in: | American journal of human genetics 1991-11, Vol.49 (5), p.978-984 |
|---|---|
| Hauptverfasser: | , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 984 |
|---|---|
| container_issue | 5 |
| container_start_page | 978 |
| container_title | American journal of human genetics |
| container_volume | 49 |
| creator | RYYNANEN, M KNOWLTON, R. G UITTO, J |
| description | Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin gene clusters on chromosome 12 or chromosome 17. Although these keratin gene loci are not defined by RFLPs, several mapped RFLPs in the same chromosomal regions could be tested for linkage. A large EBS family with 14 affected and 12 unaffected individuals in three generations was analyzed for RFLP inheritance. Within this family there was no evidence for linkage of the EBS mutation to markers on chromosome 17q. However, there was evidence for close linkage to D12S17 located on chromosome 12q, with a maximum LOD score of 5.55 at theta = 0. Mapping of this mutation to chromosome 12 defines an EBS locus distinct from both EBS1 (Ogna) and EBS2 (Koebner), which are on chromosomes 8 and 1, respectively. Further mapping will determine whether this EBS locus on chromosome 12 resides within the keratin gene cluster at 12q11-q13. |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1683248</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>72161212</sourcerecordid><originalsourceid>FETCH-LOGICAL-p321t-81a392b529a9e75af45d52cd9f21226148ef6e6ba1b2d861a525ea536df2b4783</originalsourceid><addsrcrecordid>eNqFkE1LxDAURYMo4zj6E4QsxF2hL2nSZCPo4BeMuNF1eW3TmUjS1KYV599bcRh05eou7uFyuAdkDoLniZSpOCTzNE1ZopnOj8lJjG9pCqBSPiMzyEGBTOfk5gm7zrZrGhpqOlub3ge3jTbScnQuRKTR-s6ZT-rHAQcbWjoEWm364EMM3lBgp-SoQRfN2S4X5PXu9mX5kKye7x-X16uk4wyGRAFyzUrBNGqTC2wyUQtW1bphwJiETJlGGlkilKxWElAwYVBwWTeszHLFF-TqZ7cbS2_qyrRDj67oeuux3xYBbfG3ae2mWIePAqTiLPseuNwN9OF9NHEovI2VcQ5bE8ZY5AwkTDL_gtNzXHOACTz_rbR32d079Re7HmOFrumxrWzcY9MXQmrFvwCyHoTW</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>16039311</pqid></control><display><type>article</type><title>Mapping of epidermolysis bullosa simplex mutation to chromosome 12</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals Complete</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>PubMed Central</source><creator>RYYNANEN, M ; KNOWLTON, R. G ; UITTO, J</creator><creatorcontrib>RYYNANEN, M ; KNOWLTON, R. G ; UITTO, J</creatorcontrib><description>Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin gene clusters on chromosome 12 or chromosome 17. Although these keratin gene loci are not defined by RFLPs, several mapped RFLPs in the same chromosomal regions could be tested for linkage. A large EBS family with 14 affected and 12 unaffected individuals in three generations was analyzed for RFLP inheritance. Within this family there was no evidence for linkage of the EBS mutation to markers on chromosome 17q. However, there was evidence for close linkage to D12S17 located on chromosome 12q, with a maximum LOD score of 5.55 at theta = 0. Mapping of this mutation to chromosome 12 defines an EBS locus distinct from both EBS1 (Ogna) and EBS2 (Koebner), which are on chromosomes 8 and 1, respectively. Further mapping will determine whether this EBS locus on chromosome 12 resides within the keratin gene cluster at 12q11-q13.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 1718160</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: University of Chicago Press</publisher><subject>Biological and medical sciences ; chromosome 12 ; Chromosome Mapping ; Chromosomes, Human, Pair 12 ; Chromosomes, Human, Pair 17 ; Dermatology ; Epidermolysis Bullosa - genetics ; Epidermolysis Bullosa - pathology ; Female ; genes ; Genetic Linkage ; Humans ; keratin ; Keratins - genetics ; Male ; Medical sciences ; Multigene Family ; Mutation ; Pedigree ; Polymorphism, Restriction Fragment Length ; restriction fragment length polymorphism</subject><ispartof>American journal of human genetics, 1991-11, Vol.49 (5), p.978-984</ispartof><rights>1992 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/PMC1683248/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1683248/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,728,781,785,886,53796,53798</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=5295698$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1718160$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>RYYNANEN, M</creatorcontrib><creatorcontrib>KNOWLTON, R. G</creatorcontrib><creatorcontrib>UITTO, J</creatorcontrib><title>Mapping of epidermolysis bullosa simplex mutation to chromosome 12</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin gene clusters on chromosome 12 or chromosome 17. Although these keratin gene loci are not defined by RFLPs, several mapped RFLPs in the same chromosomal regions could be tested for linkage. A large EBS family with 14 affected and 12 unaffected individuals in three generations was analyzed for RFLP inheritance. Within this family there was no evidence for linkage of the EBS mutation to markers on chromosome 17q. However, there was evidence for close linkage to D12S17 located on chromosome 12q, with a maximum LOD score of 5.55 at theta = 0. Mapping of this mutation to chromosome 12 defines an EBS locus distinct from both EBS1 (Ogna) and EBS2 (Koebner), which are on chromosomes 8 and 1, respectively. Further mapping will determine whether this EBS locus on chromosome 12 resides within the keratin gene cluster at 12q11-q13.</description><subject>Biological and medical sciences</subject><subject>chromosome 12</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 12</subject><subject>Chromosomes, Human, Pair 17</subject><subject>Dermatology</subject><subject>Epidermolysis Bullosa - genetics</subject><subject>Epidermolysis Bullosa - pathology</subject><subject>Female</subject><subject>genes</subject><subject>Genetic Linkage</subject><subject>Humans</subject><subject>keratin</subject><subject>Keratins - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Multigene Family</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>restriction fragment length polymorphism</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1LxDAURYMo4zj6E4QsxF2hL2nSZCPo4BeMuNF1eW3TmUjS1KYV599bcRh05eou7uFyuAdkDoLniZSpOCTzNE1ZopnOj8lJjG9pCqBSPiMzyEGBTOfk5gm7zrZrGhpqOlub3ge3jTbScnQuRKTR-s6ZT-rHAQcbWjoEWm364EMM3lBgp-SoQRfN2S4X5PXu9mX5kKye7x-X16uk4wyGRAFyzUrBNGqTC2wyUQtW1bphwJiETJlGGlkilKxWElAwYVBwWTeszHLFF-TqZ7cbS2_qyrRDj67oeuux3xYBbfG3ae2mWIePAqTiLPseuNwN9OF9NHEovI2VcQ5bE8ZY5AwkTDL_gtNzXHOACTz_rbR32d079Re7HmOFrumxrWzcY9MXQmrFvwCyHoTW</recordid><startdate>19911101</startdate><enddate>19911101</enddate><creator>RYYNANEN, M</creator><creator>KNOWLTON, R. G</creator><creator>UITTO, J</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>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19911101</creationdate><title>Mapping of epidermolysis bullosa simplex mutation to chromosome 12</title><author>RYYNANEN, M ; KNOWLTON, R. G ; UITTO, J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p321t-81a392b529a9e75af45d52cd9f21226148ef6e6ba1b2d861a525ea536df2b4783</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1991</creationdate><topic>Biological and medical sciences</topic><topic>chromosome 12</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 12</topic><topic>Chromosomes, Human, Pair 17</topic><topic>Dermatology</topic><topic>Epidermolysis Bullosa - genetics</topic><topic>Epidermolysis Bullosa - pathology</topic><topic>Female</topic><topic>genes</topic><topic>Genetic Linkage</topic><topic>Humans</topic><topic>keratin</topic><topic>Keratins - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Multigene Family</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>restriction fragment length polymorphism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>RYYNANEN, M</creatorcontrib><creatorcontrib>KNOWLTON, R. G</creatorcontrib><creatorcontrib>UITTO, J</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>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering 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>RYYNANEN, M</au><au>KNOWLTON, R. G</au><au>UITTO, J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mapping of epidermolysis bullosa simplex mutation to chromosome 12</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1991-11-01</date><risdate>1991</risdate><volume>49</volume><issue>5</issue><spage>978</spage><epage>984</epage><pages>978-984</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin gene clusters on chromosome 12 or chromosome 17. Although these keratin gene loci are not defined by RFLPs, several mapped RFLPs in the same chromosomal regions could be tested for linkage. A large EBS family with 14 affected and 12 unaffected individuals in three generations was analyzed for RFLP inheritance. Within this family there was no evidence for linkage of the EBS mutation to markers on chromosome 17q. However, there was evidence for close linkage to D12S17 located on chromosome 12q, with a maximum LOD score of 5.55 at theta = 0. Mapping of this mutation to chromosome 12 defines an EBS locus distinct from both EBS1 (Ogna) and EBS2 (Koebner), which are on chromosomes 8 and 1, respectively. Further mapping will determine whether this EBS locus on chromosome 12 resides within the keratin gene cluster at 12q11-q13.</abstract><cop>Chicago, IL</cop><pub>University of Chicago Press</pub><pmid>1718160</pmid><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 1991-11, Vol.49 (5), p.978-984 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1683248 |
| source | MEDLINE; Elsevier ScienceDirect Journals Complete; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Biological and medical sciences chromosome 12 Chromosome Mapping Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 17 Dermatology Epidermolysis Bullosa - genetics Epidermolysis Bullosa - pathology Female genes Genetic Linkage Humans keratin Keratins - genetics Male Medical sciences Multigene Family Mutation Pedigree Polymorphism, Restriction Fragment Length restriction fragment length polymorphism |
| title | Mapping of epidermolysis bullosa simplex mutation to chromosome 12 |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-14T02%3A18%3A30IST&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=Mapping%20of%20epidermolysis%20bullosa%20simplex%20mutation%20to%20chromosome%2012&rft.jtitle=American%20journal%20of%20human%20genetics&rft.au=RYYNANEN,%20M&rft.date=1991-11-01&rft.volume=49&rft.issue=5&rft.spage=978&rft.epage=984&rft.pages=978-984&rft.issn=0002-9297&rft.eissn=1537-6605&rft.coden=AJHGAG&rft_id=info:doi/&rft_dat=%3Cproquest_pubme%3E72161212%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=16039311&rft_id=info:pmid/1718160&rfr_iscdi=true |