Polar Body Diagnosis for Hemophilia A Using Multiplex PCR for Linked Polymorphic Markers
Preimplantation genetic diagnosis (PGD) is usually performed on blastomeres. In Germany, the only possibility to perform PGD is by analysis of polar bodies. We performed PGD using polar bodies in a woman who is a carrier of hemophilia A. Multiplex PCR followed by nested fluorescent PCR for five link...
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| Veröffentlicht in: | The journal of histochemistry and cytochemistry 2005-03, Vol.53 (3), p.277-280 |
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| container_title | The journal of histochemistry and cytochemistry |
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| creator | Tomi, Diana Griesinger, Georg Schultze-Mosgau, Askan Eckhold, Juliane Schopper, Beate Al-Hasani, Safaa Diedrich, Klaus Schwinger, Eberhard |
| description | Preimplantation genetic diagnosis (PGD) is usually performed on blastomeres. In Germany, the only possibility to perform PGD is by analysis of polar bodies. We performed PGD using polar bodies in a woman who is a carrier of hemophilia A. Multiplex PCR followed by nested fluorescent PCR for five linked polymorphic markers was established. From 11 analyzed polar bodies, only 1 showed alleles linked to the mutation. The corresponding oocyte was transferred and no pregnancy was established. As seen in other investigations, the rate of heterozygous first polar bodies is surprisingly high. |
| doi_str_mv | 10.1369/jhc.4B6393.2005 |
| format | Article |
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In Germany, the only possibility to perform PGD is by analysis of polar bodies. We performed PGD using polar bodies in a woman who is a carrier of hemophilia A. Multiplex PCR followed by nested fluorescent PCR for five linked polymorphic markers was established. From 11 analyzed polar bodies, only 1 showed alleles linked to the mutation. The corresponding oocyte was transferred and no pregnancy was established. As seen in other investigations, the rate of heterozygous first polar bodies is surprisingly high.</description><subject>Adult</subject><subject>Female</subject><subject>Genetic Carrier Screening</subject><subject>Genetic Markers</subject><subject>Hemophilia A - diagnosis</subject><subject>Hemophilia A - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Mutation</subject><subject>Oocytes - ultrastructure</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic</subject><subject>Preimplantation Diagnosis</subject><issn>0022-1554</issn><issn>1551-5044</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMtKAzEUQIMoWh9rd5KNrpya52RmqfUJFUUU3IV0kmlTM5OadKj9e6NTcOcq3HDugXsAOMZoiGleXsxn1ZBd5bSkQ4IQ3wIDzDnOOGJsGwwQIiRLH2wP7Mc4RwgzxotdsIe54CiNA_D-7J0K8MrrNby2atr6aCOsfYD3pvGLmXVWwUv4Fm07hY-dW9qFM1_wefTyC41t-2E0TJJ140PCK_iowocJ8RDs1MpFc7R5D8Db7c3r6D4bP909jC7HWUVzssyUoAURohREEUYmghSIYiS0KTWf1EblnJpJrnWpCqIRF7SsS8M1QUzVTCtND8BZ710E_9mZuJSNjZVxTrXGd1HmghU5FSSBFz1YBR9jMLVcBNuosJYYyZ-YMsWUfUz5EzNtnGzU3aQx-o_f1EvAeQ9ENTVy7rvQplP_8Z32-MxOZysbjIyNci7ZsVytVpzKBApBvwHg2Iph</recordid><startdate>20050301</startdate><enddate>20050301</enddate><creator>Tomi, Diana</creator><creator>Griesinger, Georg</creator><creator>Schultze-Mosgau, Askan</creator><creator>Eckhold, Juliane</creator><creator>Schopper, Beate</creator><creator>Al-Hasani, Safaa</creator><creator>Diedrich, Klaus</creator><creator>Schwinger, Eberhard</creator><general>Histochemical Soc</general><general>SAGE Publications</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>20050301</creationdate><title>Polar Body Diagnosis for Hemophilia A Using Multiplex PCR for Linked Polymorphic Markers</title><author>Tomi, Diana ; Griesinger, Georg ; Schultze-Mosgau, Askan ; Eckhold, Juliane ; Schopper, Beate ; Al-Hasani, Safaa ; Diedrich, Klaus ; Schwinger, Eberhard</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c362t-a738277972a242b72803107de9d5bfea653eb6dd9a82d05739f9e5d204af4dad3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Adult</topic><topic>Female</topic><topic>Genetic Carrier Screening</topic><topic>Genetic Markers</topic><topic>Hemophilia A - diagnosis</topic><topic>Hemophilia A - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Mutation</topic><topic>Oocytes - ultrastructure</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic</topic><topic>Preimplantation Diagnosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tomi, Diana</creatorcontrib><creatorcontrib>Griesinger, Georg</creatorcontrib><creatorcontrib>Schultze-Mosgau, Askan</creatorcontrib><creatorcontrib>Eckhold, Juliane</creatorcontrib><creatorcontrib>Schopper, Beate</creatorcontrib><creatorcontrib>Al-Hasani, Safaa</creatorcontrib><creatorcontrib>Diedrich, Klaus</creatorcontrib><creatorcontrib>Schwinger, Eberhard</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>The journal of histochemistry and cytochemistry</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tomi, Diana</au><au>Griesinger, Georg</au><au>Schultze-Mosgau, Askan</au><au>Eckhold, Juliane</au><au>Schopper, Beate</au><au>Al-Hasani, Safaa</au><au>Diedrich, Klaus</au><au>Schwinger, Eberhard</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Polar Body Diagnosis for Hemophilia A Using Multiplex PCR for Linked Polymorphic Markers</atitle><jtitle>The journal of histochemistry and cytochemistry</jtitle><addtitle>J Histochem Cytochem</addtitle><date>2005-03-01</date><risdate>2005</risdate><volume>53</volume><issue>3</issue><spage>277</spage><epage>280</epage><pages>277-280</pages><issn>0022-1554</issn><eissn>1551-5044</eissn><abstract>Preimplantation genetic diagnosis (PGD) is usually performed on blastomeres. 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| source | Access via SAGE; MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection; Free Full-Text Journals in Chemistry |
| subjects | Adult Female Genetic Carrier Screening Genetic Markers Hemophilia A - diagnosis Hemophilia A - genetics Humans Male Mutation Oocytes - ultrastructure Pedigree Polymerase Chain Reaction Polymorphism, Genetic Preimplantation Diagnosis |
| title | Polar Body Diagnosis for Hemophilia A Using Multiplex PCR for Linked Polymorphic Markers |
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