Direct Identification of Sickle Cell Anemia by Blot Hybridization
Several reports have been published on the use of polymorphisms found in the human hemoglobin genes as a means for prenatal diagnosis of sickle cell anemia. The disadvantages of this approach reside in its limited application and the need for family analysis. Here we report that, by use of restricti...
Gespeichert in:
| Veröffentlicht in: | Proceedings of the National Academy of Sciences - PNAS 1981-08, Vol.78 (8), p.5081-5085 |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 5085 |
|---|---|
| container_issue | 8 |
| container_start_page | 5081 |
| container_title | Proceedings of the National Academy of Sciences - PNAS |
| container_volume | 78 |
| creator | Geever, Robert F. Wilson, Lois B. Nallaseth, Ferez S. Milner, Paul F. Bittner, Michael Wilson, John T. |
| description | Several reports have been published on the use of polymorphisms found in the human hemoglobin genes as a means for prenatal diagnosis of sickle cell anemia. The disadvantages of this approach reside in its limited application and the need for family analysis. Here we report that, by use of restriction endonuclease Dde I and diazobenzyloxymethyl-paper transfer procedures, a direct analysis can be made. Individuals with normal hemoglobin (AA) show two bands (175 and 201 base pairs) complementary to a 5′-specific β -globin gene probe. Sickle cell trait individuals (AS) exhibit an additional band (376 base pairs). Individuals with sickle cell anemia (SS) show the band at 376 base pairs with a concomitant loss of the 175-base pair band. We interpret these changes in banding pattern to be the result of the elimination of a restriction site for Dde I in the altered codon associated with the sickle cell allele. Because an analysis can be performed on as little as 20 μ g of cellular DNA, the application to prenatal diagnosis of sickle cell anemia should be possible. |
| doi_str_mv | 10.1073/pnas.78.8.5081 |
| format | Article |
| fullrecord | <record><control><sourceid>jstor_pubme</sourceid><recordid>TN_cdi_pubmed_primary_6272289</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><jstor_id>10487</jstor_id><sourcerecordid>10487</sourcerecordid><originalsourceid>FETCH-LOGICAL-c553t-8c8619792a55e53fd2dfc20157b890f6587296c799ce338b1ce0f2a71bbd3c493</originalsourceid><addsrcrecordid>eNp9kb1PHDEQxa0oCA6SNgVSpK3odhnb67VdpDiOTwmJIklteb12MOytL7YvyvHXs8cd6Giopni_N_NGD6FvGCoMnJ4uBp0qLipRMRD4E5pgkLhsagmf0QSA8FLUpD5Ahyk9AIBkAvbRfkM4IUJO0PTcR2tycdPZIXvnjc4-DEVwxU9vHntbzGzfF9PBzr0u2lVx1odcXK_a6Dv_9MJ-QXtO98l-3c4j9Pvy4tfsury9u7qZTW9LwxjNpTCiwZJLohmzjLqOdM4QwIy3QoJrmOBENoZLaSylosXGgiOa47btqKklPUI_NnsXy3ZuOzPmjbpXi-jnOq5U0F69VwZ_r_6Ef4oSoLQZ_Sdbfwx_lzZlNffJjN_pwYZlUpxyAvzl0McgZhTXtRAjWG1AE0NK0bq3MBjUuhy1LkdxoYRalzMavu--8IZv29jR175Xddd_8pGu3LLvs_2fR_B4Az6kHOJOrFpw-gzvtqt8</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>15314488</pqid></control><display><type>article</type><title>Direct Identification of Sickle Cell Anemia by Blot Hybridization</title><source>MEDLINE</source><source>JSTOR Archive Collection A-Z Listing</source><source>PubMed Central</source><source>Alma/SFX Local Collection</source><source>Free Full-Text Journals in Chemistry</source><creator>Geever, Robert F. ; Wilson, Lois B. ; Nallaseth, Ferez S. ; Milner, Paul F. ; Bittner, Michael ; Wilson, John T.</creator><creatorcontrib>Geever, Robert F. ; Wilson, Lois B. ; Nallaseth, Ferez S. ; Milner, Paul F. ; Bittner, Michael ; Wilson, John T.</creatorcontrib><description>Several reports have been published on the use of polymorphisms found in the human hemoglobin genes as a means for prenatal diagnosis of sickle cell anemia. The disadvantages of this approach reside in its limited application and the need for family analysis. Here we report that, by use of restriction endonuclease Dde I and diazobenzyloxymethyl-paper transfer procedures, a direct analysis can be made. Individuals with normal hemoglobin (AA) show two bands (175 and 201 base pairs) complementary to a 5′-specific β -globin gene probe. Sickle cell trait individuals (AS) exhibit an additional band (376 base pairs). Individuals with sickle cell anemia (SS) show the band at 376 base pairs with a concomitant loss of the 175-base pair band. We interpret these changes in banding pattern to be the result of the elimination of a restriction site for Dde I in the altered codon associated with the sickle cell allele. Because an analysis can be performed on as little as 20 μ g of cellular DNA, the application to prenatal diagnosis of sickle cell anemia should be possible.</description><identifier>ISSN: 0027-8424</identifier><identifier>EISSN: 1091-6490</identifier><identifier>DOI: 10.1073/pnas.78.8.5081</identifier><identifier>PMID: 6272289</identifier><language>eng</language><publisher>United States: National Academy of Sciences of the United States of America</publisher><subject>Anemia, Sickle Cell - diagnosis ; Anemia, Sickle Cell - genetics ; Cloning, Molecular - methods ; DNA ; DNA probes ; DNA Restriction Enzymes ; Enzymes ; Gels ; Genetic mutation ; Globins - genetics ; Hemoglobin, Sickle - genetics ; Hemoglobins ; Humans ; Nucleic Acid Hybridization ; Plasmids ; Polymorphism, Genetic ; Recombinant DNA ; Sickle cell anemia ; Sickle cell trait ; Sickles</subject><ispartof>Proceedings of the National Academy of Sciences - PNAS, 1981-08, Vol.78 (8), p.5081-5085</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c553t-8c8619792a55e53fd2dfc20157b890f6587296c799ce338b1ce0f2a71bbd3c493</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Uhttp://www.pnas.org/content/78/8.cover.gif</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/10487$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/10487$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>230,314,727,780,784,803,885,27923,27924,53790,53792,58016,58249</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/6272289$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Geever, Robert F.</creatorcontrib><creatorcontrib>Wilson, Lois B.</creatorcontrib><creatorcontrib>Nallaseth, Ferez S.</creatorcontrib><creatorcontrib>Milner, Paul F.</creatorcontrib><creatorcontrib>Bittner, Michael</creatorcontrib><creatorcontrib>Wilson, John T.</creatorcontrib><title>Direct Identification of Sickle Cell Anemia by Blot Hybridization</title><title>Proceedings of the National Academy of Sciences - PNAS</title><addtitle>Proc Natl Acad Sci U S A</addtitle><description>Several reports have been published on the use of polymorphisms found in the human hemoglobin genes as a means for prenatal diagnosis of sickle cell anemia. The disadvantages of this approach reside in its limited application and the need for family analysis. Here we report that, by use of restriction endonuclease Dde I and diazobenzyloxymethyl-paper transfer procedures, a direct analysis can be made. Individuals with normal hemoglobin (AA) show two bands (175 and 201 base pairs) complementary to a 5′-specific β -globin gene probe. Sickle cell trait individuals (AS) exhibit an additional band (376 base pairs). Individuals with sickle cell anemia (SS) show the band at 376 base pairs with a concomitant loss of the 175-base pair band. We interpret these changes in banding pattern to be the result of the elimination of a restriction site for Dde I in the altered codon associated with the sickle cell allele. Because an analysis can be performed on as little as 20 μ g of cellular DNA, the application to prenatal diagnosis of sickle cell anemia should be possible.</description><subject>Anemia, Sickle Cell - diagnosis</subject><subject>Anemia, Sickle Cell - genetics</subject><subject>Cloning, Molecular - methods</subject><subject>DNA</subject><subject>DNA probes</subject><subject>DNA Restriction Enzymes</subject><subject>Enzymes</subject><subject>Gels</subject><subject>Genetic mutation</subject><subject>Globins - genetics</subject><subject>Hemoglobin, Sickle - genetics</subject><subject>Hemoglobins</subject><subject>Humans</subject><subject>Nucleic Acid Hybridization</subject><subject>Plasmids</subject><subject>Polymorphism, Genetic</subject><subject>Recombinant DNA</subject><subject>Sickle cell anemia</subject><subject>Sickle cell trait</subject><subject>Sickles</subject><issn>0027-8424</issn><issn>1091-6490</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1981</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kb1PHDEQxa0oCA6SNgVSpK3odhnb67VdpDiOTwmJIklteb12MOytL7YvyvHXs8cd6Giopni_N_NGD6FvGCoMnJ4uBp0qLipRMRD4E5pgkLhsagmf0QSA8FLUpD5Ahyk9AIBkAvbRfkM4IUJO0PTcR2tycdPZIXvnjc4-DEVwxU9vHntbzGzfF9PBzr0u2lVx1odcXK_a6Dv_9MJ-QXtO98l-3c4j9Pvy4tfsury9u7qZTW9LwxjNpTCiwZJLohmzjLqOdM4QwIy3QoJrmOBENoZLaSylosXGgiOa47btqKklPUI_NnsXy3ZuOzPmjbpXi-jnOq5U0F69VwZ_r_6Ef4oSoLQZ_Sdbfwx_lzZlNffJjN_pwYZlUpxyAvzl0McgZhTXtRAjWG1AE0NK0bq3MBjUuhy1LkdxoYRalzMavu--8IZv29jR175Xddd_8pGu3LLvs_2fR_B4Az6kHOJOrFpw-gzvtqt8</recordid><startdate>19810801</startdate><enddate>19810801</enddate><creator>Geever, Robert F.</creator><creator>Wilson, Lois B.</creator><creator>Nallaseth, Ferez S.</creator><creator>Milner, Paul F.</creator><creator>Bittner, Michael</creator><creator>Wilson, John T.</creator><general>National Academy of Sciences of the United States of America</general><general>National Acad Sciences</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19810801</creationdate><title>Direct Identification of Sickle Cell Anemia by Blot Hybridization</title><author>Geever, Robert F. ; Wilson, Lois B. ; Nallaseth, Ferez S. ; Milner, Paul F. ; Bittner, Michael ; Wilson, John T.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c553t-8c8619792a55e53fd2dfc20157b890f6587296c799ce338b1ce0f2a71bbd3c493</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1981</creationdate><topic>Anemia, Sickle Cell - diagnosis</topic><topic>Anemia, Sickle Cell - genetics</topic><topic>Cloning, Molecular - methods</topic><topic>DNA</topic><topic>DNA probes</topic><topic>DNA Restriction Enzymes</topic><topic>Enzymes</topic><topic>Gels</topic><topic>Genetic mutation</topic><topic>Globins - genetics</topic><topic>Hemoglobin, Sickle - genetics</topic><topic>Hemoglobins</topic><topic>Humans</topic><topic>Nucleic Acid Hybridization</topic><topic>Plasmids</topic><topic>Polymorphism, Genetic</topic><topic>Recombinant DNA</topic><topic>Sickle cell anemia</topic><topic>Sickle cell trait</topic><topic>Sickles</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Geever, Robert F.</creatorcontrib><creatorcontrib>Wilson, Lois B.</creatorcontrib><creatorcontrib>Nallaseth, Ferez S.</creatorcontrib><creatorcontrib>Milner, Paul F.</creatorcontrib><creatorcontrib>Bittner, Michael</creatorcontrib><creatorcontrib>Wilson, John T.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</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>Proceedings of the National Academy of Sciences - PNAS</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Geever, Robert F.</au><au>Wilson, Lois B.</au><au>Nallaseth, Ferez S.</au><au>Milner, Paul F.</au><au>Bittner, Michael</au><au>Wilson, John T.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Direct Identification of Sickle Cell Anemia by Blot Hybridization</atitle><jtitle>Proceedings of the National Academy of Sciences - PNAS</jtitle><addtitle>Proc Natl Acad Sci U S A</addtitle><date>1981-08-01</date><risdate>1981</risdate><volume>78</volume><issue>8</issue><spage>5081</spage><epage>5085</epage><pages>5081-5085</pages><issn>0027-8424</issn><eissn>1091-6490</eissn><abstract>Several reports have been published on the use of polymorphisms found in the human hemoglobin genes as a means for prenatal diagnosis of sickle cell anemia. The disadvantages of this approach reside in its limited application and the need for family analysis. Here we report that, by use of restriction endonuclease Dde I and diazobenzyloxymethyl-paper transfer procedures, a direct analysis can be made. Individuals with normal hemoglobin (AA) show two bands (175 and 201 base pairs) complementary to a 5′-specific β -globin gene probe. Sickle cell trait individuals (AS) exhibit an additional band (376 base pairs). Individuals with sickle cell anemia (SS) show the band at 376 base pairs with a concomitant loss of the 175-base pair band. We interpret these changes in banding pattern to be the result of the elimination of a restriction site for Dde I in the altered codon associated with the sickle cell allele. Because an analysis can be performed on as little as 20 μ g of cellular DNA, the application to prenatal diagnosis of sickle cell anemia should be possible.</abstract><cop>United States</cop><pub>National Academy of Sciences of the United States of America</pub><pmid>6272289</pmid><doi>10.1073/pnas.78.8.5081</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0027-8424 |
| ispartof | Proceedings of the National Academy of Sciences - PNAS, 1981-08, Vol.78 (8), p.5081-5085 |
| issn | 0027-8424 1091-6490 |
| language | eng |
| recordid | cdi_pubmed_primary_6272289 |
| source | MEDLINE; JSTOR Archive Collection A-Z Listing; PubMed Central; Alma/SFX Local Collection; Free Full-Text Journals in Chemistry |
| subjects | Anemia, Sickle Cell - diagnosis Anemia, Sickle Cell - genetics Cloning, Molecular - methods DNA DNA probes DNA Restriction Enzymes Enzymes Gels Genetic mutation Globins - genetics Hemoglobin, Sickle - genetics Hemoglobins Humans Nucleic Acid Hybridization Plasmids Polymorphism, Genetic Recombinant DNA Sickle cell anemia Sickle cell trait Sickles |
| title | Direct Identification of Sickle Cell Anemia by Blot Hybridization |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-11T15%3A54%3A13IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-jstor_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Direct%20Identification%20of%20Sickle%20Cell%20Anemia%20by%20Blot%20Hybridization&rft.jtitle=Proceedings%20of%20the%20National%20Academy%20of%20Sciences%20-%20PNAS&rft.au=Geever,%20Robert%20F.&rft.date=1981-08-01&rft.volume=78&rft.issue=8&rft.spage=5081&rft.epage=5085&rft.pages=5081-5085&rft.issn=0027-8424&rft.eissn=1091-6490&rft_id=info:doi/10.1073/pnas.78.8.5081&rft_dat=%3Cjstor_pubme%3E10487%3C/jstor_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=15314488&rft_id=info:pmid/6272289&rft_jstor_id=10487&rfr_iscdi=true |