Common mutations in cuban cystic fibrosis patients
Abstract So far, more than 1500 mutations have been reported in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. Mutational spectrum varies in accordance with geographic and/or ethnic origin. In this study, we have analyzed seven common CF mutations (p.F508del, p.G542X, p.R1162...
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| Veröffentlicht in: | Journal of cystic fibrosis 2009-01, Vol.8 (1), p.47-49 |
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| container_title | Journal of cystic fibrosis |
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| creator | Collazo, Teresa Bofill, Ana María Clark, Yulia Hernández, Yadira Gómez, Manuel Rodríguez, Fidel Ramos, María D Giménez, Javier Casals, Teresa Rojo, Manuel |
| description | Abstract So far, more than 1500 mutations have been reported in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. Mutational spectrum varies in accordance with geographic and/or ethnic origin. In this study, we have analyzed seven common CF mutations (p.F508del, p.G542X, p.R1162X, p.N1303K, p.R334W, p.R553X and c.3120 + 1G > A) taking into account the ethnic origin of the Cuban population which is mainly influenced by Spanish and sub-Sahara African contribution. All but p.N1303K have been detected in our patients, the p.F508del being the most prevalent (37.9%). Overall, six mutations showed frequencies above 1% accounting for 55.5% of the Cuban CF alleles. |
| doi_str_mv | 10.1016/j.jcf.2008.09.004 |
| format | Article |
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Mutational spectrum varies in accordance with geographic and/or ethnic origin. In this study, we have analyzed seven common CF mutations (p.F508del, p.G542X, p.R1162X, p.N1303K, p.R334W, p.R553X and c.3120 + 1G > A) taking into account the ethnic origin of the Cuban population which is mainly influenced by Spanish and sub-Sahara African contribution. All but p.N1303K have been detected in our patients, the p.F508del being the most prevalent (37.9%). Overall, six mutations showed frequencies above 1% accounting for 55.5% of the Cuban CF alleles.</description><identifier>ISSN: 1569-1993</identifier><identifier>EISSN: 1873-5010</identifier><identifier>DOI: 10.1016/j.jcf.2008.09.004</identifier><identifier>PMID: 18938114</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>CFTR gene ; Cuba ; Cuban population ; Cystic fibrosis ; Cystic Fibrosis - genetics ; DNA Mutational Analysis ; Gene Frequency ; Genetic Variation ; Genetics, Population ; Humans ; Mutation - genetics ; Pulmonary/Respiratory</subject><ispartof>Journal of cystic fibrosis, 2009-01, Vol.8 (1), p.47-49</ispartof><rights>European Cystic Fibrosis Society.</rights><rights>2008 European Cystic Fibrosis Society.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c449t-5eeb3dc39327c56b4cc9562c5a6b9929d8c159122aab5b171c4b926b4620392e3</citedby><cites>FETCH-LOGICAL-c449t-5eeb3dc39327c56b4cc9562c5a6b9929d8c159122aab5b171c4b926b4620392e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.jcf.2008.09.004$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18938114$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Collazo, Teresa</creatorcontrib><creatorcontrib>Bofill, Ana María</creatorcontrib><creatorcontrib>Clark, Yulia</creatorcontrib><creatorcontrib>Hernández, Yadira</creatorcontrib><creatorcontrib>Gómez, Manuel</creatorcontrib><creatorcontrib>Rodríguez, Fidel</creatorcontrib><creatorcontrib>Ramos, María D</creatorcontrib><creatorcontrib>Giménez, Javier</creatorcontrib><creatorcontrib>Casals, Teresa</creatorcontrib><creatorcontrib>Rojo, Manuel</creatorcontrib><title>Common mutations in cuban cystic fibrosis patients</title><title>Journal of cystic fibrosis</title><addtitle>J Cyst Fibros</addtitle><description>Abstract So far, more than 1500 mutations have been reported in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. Mutational spectrum varies in accordance with geographic and/or ethnic origin. In this study, we have analyzed seven common CF mutations (p.F508del, p.G542X, p.R1162X, p.N1303K, p.R334W, p.R553X and c.3120 + 1G > A) taking into account the ethnic origin of the Cuban population which is mainly influenced by Spanish and sub-Sahara African contribution. All but p.N1303K have been detected in our patients, the p.F508del being the most prevalent (37.9%). Overall, six mutations showed frequencies above 1% accounting for 55.5% of the Cuban CF alleles.</description><subject>CFTR gene</subject><subject>Cuba</subject><subject>Cuban population</subject><subject>Cystic fibrosis</subject><subject>Cystic Fibrosis - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Gene Frequency</subject><subject>Genetic Variation</subject><subject>Genetics, Population</subject><subject>Humans</subject><subject>Mutation - genetics</subject><subject>Pulmonary/Respiratory</subject><issn>1569-1993</issn><issn>1873-5010</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kU1r3DAQhkVoyG42-QG5FJ96szsjWbJFoVCWJi0s9JDkLKSxFuT4Y2vZhf331bILhRx6kXR43hfNM4w9IBQIqD63RUv7ggPUBegCoLxia6wrkUtA-JDeUukctRYrdhtjC4AVVPUNW2GtRY1Yrhnfjn0_Dlm_zHYO4xCzMGS0OJvOY5wDZfvgpjGGmB0S4Ic53rHrve2iv7_cG_b6-P1l-yPf_Xr6uf22y6ks9ZxL751oSGjBK5LKlURaKk7SKqc1101NKDVybq2TDiuk0mmeOMVBaO7Fhn069x6m8ffi42z6EMl3nR38uESjVCWV4CKBeAYpfTROfm8OU-jtdDQI5iTKtCaJMidRBrRJolLm46V8cb1v_iUuZhLw5Qz4NOKf4CcTKY1PvgmTp9k0Y_hv_dd3aerCEMh2b_7oYzsu05DcGTSRGzDPp02dFgV1WpKotPgL6IeMgA</recordid><startdate>20090101</startdate><enddate>20090101</enddate><creator>Collazo, Teresa</creator><creator>Bofill, Ana María</creator><creator>Clark, Yulia</creator><creator>Hernández, Yadira</creator><creator>Gómez, Manuel</creator><creator>Rodríguez, Fidel</creator><creator>Ramos, María D</creator><creator>Giménez, Javier</creator><creator>Casals, Teresa</creator><creator>Rojo, Manuel</creator><general>Elsevier B.V</general><scope>6I.</scope><scope>AAFTH</scope><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>20090101</creationdate><title>Common mutations in cuban cystic fibrosis patients</title><author>Collazo, Teresa ; Bofill, Ana María ; Clark, Yulia ; Hernández, Yadira ; Gómez, Manuel ; Rodríguez, Fidel ; Ramos, María D ; Giménez, Javier ; Casals, Teresa ; Rojo, Manuel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c449t-5eeb3dc39327c56b4cc9562c5a6b9929d8c159122aab5b171c4b926b4620392e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>CFTR gene</topic><topic>Cuba</topic><topic>Cuban population</topic><topic>Cystic fibrosis</topic><topic>Cystic Fibrosis - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Gene Frequency</topic><topic>Genetic Variation</topic><topic>Genetics, Population</topic><topic>Humans</topic><topic>Mutation - genetics</topic><topic>Pulmonary/Respiratory</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Collazo, Teresa</creatorcontrib><creatorcontrib>Bofill, Ana María</creatorcontrib><creatorcontrib>Clark, Yulia</creatorcontrib><creatorcontrib>Hernández, Yadira</creatorcontrib><creatorcontrib>Gómez, Manuel</creatorcontrib><creatorcontrib>Rodríguez, Fidel</creatorcontrib><creatorcontrib>Ramos, María D</creatorcontrib><creatorcontrib>Giménez, Javier</creatorcontrib><creatorcontrib>Casals, Teresa</creatorcontrib><creatorcontrib>Rojo, Manuel</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><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>Journal of cystic fibrosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Collazo, Teresa</au><au>Bofill, Ana María</au><au>Clark, Yulia</au><au>Hernández, Yadira</au><au>Gómez, Manuel</au><au>Rodríguez, Fidel</au><au>Ramos, María D</au><au>Giménez, Javier</au><au>Casals, Teresa</au><au>Rojo, Manuel</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Common mutations in cuban cystic fibrosis patients</atitle><jtitle>Journal of cystic fibrosis</jtitle><addtitle>J Cyst Fibros</addtitle><date>2009-01-01</date><risdate>2009</risdate><volume>8</volume><issue>1</issue><spage>47</spage><epage>49</epage><pages>47-49</pages><issn>1569-1993</issn><eissn>1873-5010</eissn><abstract>Abstract So far, more than 1500 mutations have been reported in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. 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| ispartof | Journal of cystic fibrosis, 2009-01, Vol.8 (1), p.47-49 |
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| language | eng |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; ScienceDirect Journals (5 years ago - present) |
| subjects | CFTR gene Cuba Cuban population Cystic fibrosis Cystic Fibrosis - genetics DNA Mutational Analysis Gene Frequency Genetic Variation Genetics, Population Humans Mutation - genetics Pulmonary/Respiratory |
| title | Common mutations in cuban cystic fibrosis patients |
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