Patterns of polymorphism and linkage disequilibrium for cystic fibrosis
Four polymorphic markers that map within 80 kb of an HTF island which is genetically very close to the cystic fibrosis locus have been identified. We have analyzed the linkage disequilibrium between each of these markers and the cystic fibrosis mutation in 89 families from four European countries, D...
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| Veröffentlicht in: | Genomics (San Diego, Calif.) Calif.), 1987-11, Vol.1 (3), p.257-263 |
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| container_title | Genomics (San Diego, Calif.) |
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| creator | Estivill, X. Scambler, P.J. Wainwright, B.J. Hawley, K. Frederick, P. Schwartz, M. Baiget, M. Kere, J. Williamson, R. Farrall, M. |
| description | Four polymorphic markers that map within 80 kb of an HTF island which is genetically very close to the cystic fibrosis locus have been identified. We have analyzed the linkage disequilibrium between each of these markers and the cystic fibrosis mutation in 89 families from four European countries, Denmark, Finland, Spain, and Great Britain. Strong linkage disequilibrium between three polymorphic sites and cystic fibrosis was observed. The markers on the J3.11 (
D7S8) side of the HTF island show stronger disequilibrium than those on the
met side. Linkage disequilibrium between markers and disease alters the probability that a person of a given haplotype is a carrier is some populations and helps to identify regions of a sequence that are most likely to contain the cystic fibrosis mutation. |
| doi_str_mv | 10.1016/0888-7543(87)90052-8 |
| format | Article |
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D7S8) side of the HTF island show stronger disequilibrium than those on the
met side. Linkage disequilibrium between markers and disease alters the probability that a person of a given haplotype is a carrier is some populations and helps to identify regions of a sequence that are most likely to contain the cystic fibrosis mutation.</description><identifier>ISSN: 0888-7543</identifier><identifier>EISSN: 1089-8646</identifier><identifier>DOI: 10.1016/0888-7543(87)90052-8</identifier><identifier>PMID: 2895728</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Chromosome Mapping ; Cystic Fibrosis - genetics ; Female ; Genetic Linkage ; Genetic Markers ; Haplotypes ; Humans ; Male ; Pedigree ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length</subject><ispartof>Genomics (San Diego, Calif.), 1987-11, Vol.1 (3), p.257-263</ispartof><rights>1987</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c272t-c7931b85b332b40af83fc85a6d558fa78cf9eeefeee169c405a9eed6d6c5cb953</citedby><cites>FETCH-LOGICAL-c272t-c7931b85b332b40af83fc85a6d558fa78cf9eeefeee169c405a9eed6d6c5cb953</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/0888-7543(87)90052-8$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3548,27922,27923,45993</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2895728$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Estivill, X.</creatorcontrib><creatorcontrib>Scambler, P.J.</creatorcontrib><creatorcontrib>Wainwright, B.J.</creatorcontrib><creatorcontrib>Hawley, K.</creatorcontrib><creatorcontrib>Frederick, P.</creatorcontrib><creatorcontrib>Schwartz, M.</creatorcontrib><creatorcontrib>Baiget, M.</creatorcontrib><creatorcontrib>Kere, J.</creatorcontrib><creatorcontrib>Williamson, R.</creatorcontrib><creatorcontrib>Farrall, M.</creatorcontrib><title>Patterns of polymorphism and linkage disequilibrium for cystic fibrosis</title><title>Genomics (San Diego, Calif.)</title><addtitle>Genomics</addtitle><description>Four polymorphic markers that map within 80 kb of an HTF island which is genetically very close to the cystic fibrosis locus have been identified. We have analyzed the linkage disequilibrium between each of these markers and the cystic fibrosis mutation in 89 families from four European countries, Denmark, Finland, Spain, and Great Britain. Strong linkage disequilibrium between three polymorphic sites and cystic fibrosis was observed. The markers on the J3.11 (
D7S8) side of the HTF island show stronger disequilibrium than those on the
met side. Linkage disequilibrium between markers and disease alters the probability that a person of a given haplotype is a carrier is some populations and helps to identify regions of a sequence that are most likely to contain the cystic fibrosis mutation.</description><subject>Chromosome Mapping</subject><subject>Cystic Fibrosis - genetics</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Male</subject><subject>Pedigree</subject><subject>Polymorphism, Genetic</subject><subject>Polymorphism, Restriction Fragment Length</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1987</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEtLAzEQx4MotVa_gcKeRA-r2Uc2k4sgRatQ0IOeQzaZaHQfbbIr9Nu7a0uPHoZhZv7z-hFyntCbhCbFLQWAmLM8uwJ-LShlaQwHZJpQEDEUeXFIpnvJMTkJ4YtSKjJIJ2SSgmA8hSlZvKquQ9-EqLXRqq02detXny7UkWpMVLnmW31gZFzAde8qV3rX15FtfaQ3oXM6skOqDS6ckiOrqoBnOz8j748Pb_OnePmyeJ7fL2Od8rSLNRdZUgIrsywtc6osZFYDU4VhDKzioK1ARDtYUgidU6aG2BSm0EyXgmUzcrmdu_LtusfQydoFjVWlGmz7IDkXggqAQZhvhXq4L3i0cuVdrfxGJlSO_OQIR45wJHD5x0-ObRe7-X1Zo9k37YAN9bttHYcnfxx6GbTDRqNxHnUnTev-X_ALWPeBSw</recordid><startdate>198711</startdate><enddate>198711</enddate><creator>Estivill, X.</creator><creator>Scambler, P.J.</creator><creator>Wainwright, B.J.</creator><creator>Hawley, K.</creator><creator>Frederick, P.</creator><creator>Schwartz, M.</creator><creator>Baiget, M.</creator><creator>Kere, J.</creator><creator>Williamson, R.</creator><creator>Farrall, M.</creator><general>Elsevier Inc</general><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>7X8</scope></search><sort><creationdate>198711</creationdate><title>Patterns of polymorphism and linkage disequilibrium for cystic fibrosis</title><author>Estivill, X. ; Scambler, P.J. ; Wainwright, B.J. ; Hawley, K. ; Frederick, P. ; Schwartz, M. ; Baiget, M. ; Kere, J. ; Williamson, R. ; Farrall, M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c272t-c7931b85b332b40af83fc85a6d558fa78cf9eeefeee169c405a9eed6d6c5cb953</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1987</creationdate><topic>Chromosome Mapping</topic><topic>Cystic Fibrosis - genetics</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Genetic Markers</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Male</topic><topic>Pedigree</topic><topic>Polymorphism, Genetic</topic><topic>Polymorphism, Restriction Fragment Length</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Estivill, X.</creatorcontrib><creatorcontrib>Scambler, P.J.</creatorcontrib><creatorcontrib>Wainwright, B.J.</creatorcontrib><creatorcontrib>Hawley, K.</creatorcontrib><creatorcontrib>Frederick, P.</creatorcontrib><creatorcontrib>Schwartz, M.</creatorcontrib><creatorcontrib>Baiget, M.</creatorcontrib><creatorcontrib>Kere, J.</creatorcontrib><creatorcontrib>Williamson, R.</creatorcontrib><creatorcontrib>Farrall, M.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Genomics (San Diego, Calif.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Estivill, X.</au><au>Scambler, P.J.</au><au>Wainwright, B.J.</au><au>Hawley, K.</au><au>Frederick, P.</au><au>Schwartz, M.</au><au>Baiget, M.</au><au>Kere, J.</au><au>Williamson, R.</au><au>Farrall, M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Patterns of polymorphism and linkage disequilibrium for cystic fibrosis</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>1987-11</date><risdate>1987</risdate><volume>1</volume><issue>3</issue><spage>257</spage><epage>263</epage><pages>257-263</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>Four polymorphic markers that map within 80 kb of an HTF island which is genetically very close to the cystic fibrosis locus have been identified. We have analyzed the linkage disequilibrium between each of these markers and the cystic fibrosis mutation in 89 families from four European countries, Denmark, Finland, Spain, and Great Britain. Strong linkage disequilibrium between three polymorphic sites and cystic fibrosis was observed. The markers on the J3.11 (
D7S8) side of the HTF island show stronger disequilibrium than those on the
met side. Linkage disequilibrium between markers and disease alters the probability that a person of a given haplotype is a carrier is some populations and helps to identify regions of a sequence that are most likely to contain the cystic fibrosis mutation.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>2895728</pmid><doi>10.1016/0888-7543(87)90052-8</doi><tpages>7</tpages></addata></record> |
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| ispartof | Genomics (San Diego, Calif.), 1987-11, Vol.1 (3), p.257-263 |
| issn | 0888-7543 1089-8646 |
| language | eng |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Chromosome Mapping Cystic Fibrosis - genetics Female Genetic Linkage Genetic Markers Haplotypes Humans Male Pedigree Polymorphism, Genetic Polymorphism, Restriction Fragment Length |
| title | Patterns of polymorphism and linkage disequilibrium for cystic fibrosis |
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