Oligonucleotide Screening of β Thalassemia Mutations in the South East of France
France is a non-endemic region for β thalassemia. In this country, the sporadic cases of Cooley's disease encountered affect almost constantly subjects of Mediterranean origin. In this report, we have screened, using oligonucleotide probes, the distribution of the main β thalassemia mutations p...
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| Veröffentlicht in: | Hemoglobin 1987, Vol.11 (4), p.317-327 |
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| creator | Milland, M. Bergé-Lefranc, J. L. Lena, D. Cartouzou, G. |
| description | France is a non-endemic region for β thalassemia. In this country, the sporadic cases of Cooley's disease encountered affect almost constantly subjects of Mediterranean origin.
In this report, we have screened, using oligonucleotide probes, the distribution of the main β thalassemia mutations present in the population of South-eastern France whose origins lie in the mixing of several Mediterranean ethnic groups. Among 105 β thalassemia chromosomes, we have observed a limited number of alleles, since, by using oligonucleotide probes for six mutations, we have characterized the molecular defect in 90 % of the chromosomes. The four main mutations were found in more than 85 % of the chromosomes and the others in about 5 %. The distribution of the β thalassemia mutations within the various ethnic groups was determined. |
| doi_str_mv | 10.3109/03630268709042851 |
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In this report, we have screened, using oligonucleotide probes, the distribution of the main β thalassemia mutations present in the population of South-eastern France whose origins lie in the mixing of several Mediterranean ethnic groups. Among 105 β thalassemia chromosomes, we have observed a limited number of alleles, since, by using oligonucleotide probes for six mutations, we have characterized the molecular defect in 90 % of the chromosomes. The four main mutations were found in more than 85 % of the chromosomes and the others in about 5 %. The distribution of the β thalassemia mutations within the various ethnic groups was determined.</description><identifier>ISSN: 0363-0269</identifier><identifier>EISSN: 1532-432X</identifier><identifier>DOI: 10.3109/03630268709042851</identifier><identifier>PMID: 3667319</identifier><identifier>CODEN: HEMOD8</identifier><language>eng</language><publisher>Monticello, NY: Informa UK Ltd</publisher><subject>Alleles ; Anemias. Hemoglobinopathies ; Biological and medical sciences ; Diseases of red blood cells ; DNA - genetics ; Ethnic Groups ; France ; Gene Frequency ; Hematologic and hematopoietic diseases ; Humans ; Medical sciences ; Mutation ; Nucleic Acid Hybridization ; Oligodeoxyribonucleotides - genetics ; Thalassemia - genetics</subject><ispartof>Hemoglobin, 1987, Vol.11 (4), p.317-327</ispartof><rights>1987 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted 1987</rights><rights>1987 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c430t-4422d781651d03db3f95925f63b277a660c4c20a17619bd4e993f882a54523ec3</citedby><cites>FETCH-LOGICAL-c430t-4422d781651d03db3f95925f63b277a660c4c20a17619bd4e993f882a54523ec3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.tandfonline.com/doi/pdf/10.3109/03630268709042851$$EPDF$$P50$$Ginformahealthcare$$H</linktopdf><linktohtml>$$Uhttps://www.tandfonline.com/doi/full/10.3109/03630268709042851$$EHTML$$P50$$Ginformahealthcare$$H</linktohtml><link.rule.ids>314,776,780,4009,27902,27903,27904,59623,59729,60412,60518,61197,61232,61378,61413</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=8278039$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3667319$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Milland, M.</creatorcontrib><creatorcontrib>Bergé-Lefranc, J. L.</creatorcontrib><creatorcontrib>Lena, D.</creatorcontrib><creatorcontrib>Cartouzou, G.</creatorcontrib><title>Oligonucleotide Screening of β Thalassemia Mutations in the South East of France</title><title>Hemoglobin</title><addtitle>Hemoglobin</addtitle><description>France is a non-endemic region for β thalassemia. In this country, the sporadic cases of Cooley's disease encountered affect almost constantly subjects of Mediterranean origin.
In this report, we have screened, using oligonucleotide probes, the distribution of the main β thalassemia mutations present in the population of South-eastern France whose origins lie in the mixing of several Mediterranean ethnic groups. Among 105 β thalassemia chromosomes, we have observed a limited number of alleles, since, by using oligonucleotide probes for six mutations, we have characterized the molecular defect in 90 % of the chromosomes. The four main mutations were found in more than 85 % of the chromosomes and the others in about 5 %. The distribution of the β thalassemia mutations within the various ethnic groups was determined.</description><subject>Alleles</subject><subject>Anemias. Hemoglobinopathies</subject><subject>Biological and medical sciences</subject><subject>Diseases of red blood cells</subject><subject>DNA - genetics</subject><subject>Ethnic Groups</subject><subject>France</subject><subject>Gene Frequency</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Nucleic Acid Hybridization</subject><subject>Oligodeoxyribonucleotides - genetics</subject><subject>Thalassemia - genetics</subject><issn>0363-0269</issn><issn>1532-432X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1987</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kM9q1kAUxQex1M_qA7gQshB30Tt_k0E3UloVKkWs4C7cbzJppkxm6syE0tfqg_hMTfg-CyJ0dRfndw73HEJeUXjHKej3wBUHptoGNAjWSvqEbKjkrBac_XpKNqteL4B-Rp7nfAVAdQPikBxypRpO9YZ8P_fuMobZeBuL6231wyRrgwuXVRyqP3fVxYgec7aTw-rbXLC4GHLlQlXGBY5zGasTzGWlTxMGY1-QgwF9ti_394j8PD25OP5Sn51__nr86aw2gkOphWCsb1qqJO2B91s-aKmZHBTfsqZBpcAIwwBpo6je9sJqzYe2ZSiFZNwafkTe7nKvU_w921y6yWVjvcdg45y7loLUHOQC0h1oUsw52aG7Tm7CdNtR6NYZu_9mXDyv9-HzdrL9g2O_26K_2euYDfphbe7yA9aypgW-Yh93mAtDTBPexOT7ruCtj-mvhz_2xYd_7KNFX0aDyXZXcU5hmfeRDveN_J4o</recordid><startdate>1987</startdate><enddate>1987</enddate><creator>Milland, M.</creator><creator>Bergé-Lefranc, J. L.</creator><creator>Lena, D.</creator><creator>Cartouzou, G.</creator><general>Informa UK Ltd</general><general>Taylor & Francis</general><general>Dekker</general><scope>IQODW</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>1987</creationdate><title>Oligonucleotide Screening of β Thalassemia Mutations in the South East of France</title><author>Milland, M. ; Bergé-Lefranc, J. L. ; Lena, D. ; Cartouzou, G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c430t-4422d781651d03db3f95925f63b277a660c4c20a17619bd4e993f882a54523ec3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1987</creationdate><topic>Alleles</topic><topic>Anemias. Hemoglobinopathies</topic><topic>Biological and medical sciences</topic><topic>Diseases of red blood cells</topic><topic>DNA - genetics</topic><topic>Ethnic Groups</topic><topic>France</topic><topic>Gene Frequency</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>Nucleic Acid Hybridization</topic><topic>Oligodeoxyribonucleotides - genetics</topic><topic>Thalassemia - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Milland, M.</creatorcontrib><creatorcontrib>Bergé-Lefranc, J. L.</creatorcontrib><creatorcontrib>Lena, D.</creatorcontrib><creatorcontrib>Cartouzou, G.</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>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Hemoglobin</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Milland, M.</au><au>Bergé-Lefranc, J. L.</au><au>Lena, D.</au><au>Cartouzou, G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Oligonucleotide Screening of β Thalassemia Mutations in the South East of France</atitle><jtitle>Hemoglobin</jtitle><addtitle>Hemoglobin</addtitle><date>1987</date><risdate>1987</risdate><volume>11</volume><issue>4</issue><spage>317</spage><epage>327</epage><pages>317-327</pages><issn>0363-0269</issn><eissn>1532-432X</eissn><coden>HEMOD8</coden><abstract>France is a non-endemic region for β thalassemia. In this country, the sporadic cases of Cooley's disease encountered affect almost constantly subjects of Mediterranean origin.
In this report, we have screened, using oligonucleotide probes, the distribution of the main β thalassemia mutations present in the population of South-eastern France whose origins lie in the mixing of several Mediterranean ethnic groups. Among 105 β thalassemia chromosomes, we have observed a limited number of alleles, since, by using oligonucleotide probes for six mutations, we have characterized the molecular defect in 90 % of the chromosomes. The four main mutations were found in more than 85 % of the chromosomes and the others in about 5 %. The distribution of the β thalassemia mutations within the various ethnic groups was determined.</abstract><cop>Monticello, NY</cop><pub>Informa UK Ltd</pub><pmid>3667319</pmid><doi>10.3109/03630268709042851</doi><tpages>11</tpages></addata></record> |
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| ispartof | Hemoglobin, 1987, Vol.11 (4), p.317-327 |
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| language | eng |
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| source | MEDLINE; Taylor & Francis Medical Library - CRKN; Taylor & Francis Journals Complete |
| subjects | Alleles Anemias. Hemoglobinopathies Biological and medical sciences Diseases of red blood cells DNA - genetics Ethnic Groups France Gene Frequency Hematologic and hematopoietic diseases Humans Medical sciences Mutation Nucleic Acid Hybridization Oligodeoxyribonucleotides - genetics Thalassemia - genetics |
| title | Oligonucleotide Screening of β Thalassemia Mutations in the South East of France |
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