Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers
The polymerase chain reaction procedure (PCR) was used to detect a polymorphic Hha I site adjacent to the factor IX locus in a panel of 33 phenotypically normal caucasian individuals. This technique was also applied to a haemophilia B family pedigree. The Hha I polymorphic site was located 8 kb 3�...
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| Veröffentlicht in: | The Lancet (British edition) 1989-03, Vol.1 (8639), p.631-634 |
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| creator | WINSHIP, P. R REES, D. J. G ALKAN, M |
| description | The polymerase chain reaction procedure (PCR) was used to detect a polymorphic Hha I site adjacent to the factor IX locus in a panel of 33 phenotypically normal caucasian individuals. This technique was also applied to a haemophilia B family pedigree. The Hha I polymorphic site was located 8 kb 3' to the factor IX gene, and the proportion of female subjects expected to be heterozygous at this site was 0.48. The Hha I locus was in linkage equilibrium with the other polymorphic loci on the factor IX gene. These findings, besides increasing the proportion of caucasian individuals whose haemophilia B carrier state can be diagnosed from 79% to 89%, demonstrate this widely applicable use of PCR for the detection of DNA polymorphism at cytosine phosphoguanadine dinucleotides irrespective of the methylation status. |
| format | Article |
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These findings, besides increasing the proportion of caucasian individuals whose haemophilia B carrier state can be diagnosed from 79% to 89%, demonstrate this widely applicable use of PCR for the detection of DNA polymorphism at cytosine phosphoguanadine dinucleotides irrespective of the methylation status.</description><identifier>ISSN: 0140-6736</identifier><identifier>EISSN: 1474-547X</identifier><identifier>PMID: 2564457</identifier><identifier>CODEN: LANCAO</identifier><language>eng</language><publisher>London: Lancet</publisher><subject>Alleles ; Base Sequence ; Biological and medical sciences ; Dinucleoside Phosphates - genetics ; DNA-Directed DNA Polymerase ; Factor IX - analysis ; Factor IX - genetics ; Genetic Carrier Screening ; Genetic Linkage ; Genetic Markers ; Genotype ; Haplotypes ; Hematologic and hematopoietic diseases ; Hemophilia B - genetics ; Humans ; Medical sciences ; Molecular Sequence Data ; Pedigree ; Platelet diseases and coagulopathies ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length ; Recombination, Genetic</subject><ispartof>The Lancet (British edition), 1989-03, Vol.1 (8639), p.631-634</ispartof><rights>1991 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19346807$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2564457$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>WINSHIP, P. R</creatorcontrib><creatorcontrib>REES, D. J. G</creatorcontrib><creatorcontrib>ALKAN, M</creatorcontrib><title>Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers</title><title>The Lancet (British edition)</title><addtitle>Lancet</addtitle><description>The polymerase chain reaction procedure (PCR) was used to detect a polymorphic Hha I site adjacent to the factor IX locus in a panel of 33 phenotypically normal caucasian individuals. This technique was also applied to a haemophilia B family pedigree. The Hha I polymorphic site was located 8 kb 3' to the factor IX gene, and the proportion of female subjects expected to be heterozygous at this site was 0.48. The Hha I locus was in linkage equilibrium with the other polymorphic loci on the factor IX gene. These findings, besides increasing the proportion of caucasian individuals whose haemophilia B carrier state can be diagnosed from 79% to 89%, demonstrate this widely applicable use of PCR for the detection of DNA polymorphism at cytosine phosphoguanadine dinucleotides irrespective of the methylation status.</description><subject>Alleles</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Dinucleoside Phosphates - genetics</subject><subject>DNA-Directed DNA Polymerase</subject><subject>Factor IX - analysis</subject><subject>Factor IX - genetics</subject><subject>Genetic Carrier Screening</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hemophilia B - genetics</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>Pedigree</subject><subject>Platelet diseases and coagulopathies</subject><subject>Polymorphism, Genetic</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Recombination, Genetic</subject><issn>0140-6736</issn><issn>1474-547X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1989</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kD1PwzAQhi0EKqXwE5CywBbJSfwRj3yDVImlA1t0sS-tURIH2xn673FFxHB30vs-eoY7I-uCSZZzJr_OyZoWjOZCVuKSXIXwTSllgvIVWZVcMMblmgzPGFFH68bMddnk-uPg_HSwYQgZxEwfowt2xGw6uJBmP8MI5hSkNeseXbQGEzqalMB-THQ4mQ6Ag0ue3kL2mGnw3qIP1-Sigz7gzXI3ZPf6snt6z7efbx9PD9t8KkQdc5C65ZoZFLwraVEopiUXHDstlGZgDJWtgpJWivKWiVZojkihFDVgpVS1Ifd_2sm7nxlDbAYbNPY9jOjm0Mi6VrQsT-DtAs7tgKaZvB3AH5vlPam_W3oIGvrOw6ht-McKVTFRU1n9AtU0ceE</recordid><startdate>19890325</startdate><enddate>19890325</enddate><creator>WINSHIP, P. R</creator><creator>REES, D. J. G</creator><creator>ALKAN, M</creator><general>Lancet</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>19890325</creationdate><title>Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers</title><author>WINSHIP, P. R ; REES, D. J. G ; ALKAN, M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p168t-a7cb5c4de65f201194c7565efc69c4add07b9a203905b46b6c5ee0a268ae3993</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1989</creationdate><topic>Alleles</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Dinucleoside Phosphates - genetics</topic><topic>DNA-Directed DNA Polymerase</topic><topic>Factor IX - analysis</topic><topic>Factor IX - genetics</topic><topic>Genetic Carrier Screening</topic><topic>Genetic Linkage</topic><topic>Genetic Markers</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hemophilia B - genetics</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Molecular Sequence Data</topic><topic>Pedigree</topic><topic>Platelet diseases and coagulopathies</topic><topic>Polymorphism, Genetic</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Recombination, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>WINSHIP, P. R</creatorcontrib><creatorcontrib>REES, D. J. G</creatorcontrib><creatorcontrib>ALKAN, M</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>MEDLINE - Academic</collection><jtitle>The Lancet (British edition)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>WINSHIP, P. R</au><au>REES, D. J. G</au><au>ALKAN, M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers</atitle><jtitle>The Lancet (British edition)</jtitle><addtitle>Lancet</addtitle><date>1989-03-25</date><risdate>1989</risdate><volume>1</volume><issue>8639</issue><spage>631</spage><epage>634</epage><pages>631-634</pages><issn>0140-6736</issn><eissn>1474-547X</eissn><coden>LANCAO</coden><abstract>The polymerase chain reaction procedure (PCR) was used to detect a polymorphic Hha I site adjacent to the factor IX locus in a panel of 33 phenotypically normal caucasian individuals. This technique was also applied to a haemophilia B family pedigree. The Hha I polymorphic site was located 8 kb 3' to the factor IX gene, and the proportion of female subjects expected to be heterozygous at this site was 0.48. The Hha I locus was in linkage equilibrium with the other polymorphic loci on the factor IX gene. These findings, besides increasing the proportion of caucasian individuals whose haemophilia B carrier state can be diagnosed from 79% to 89%, demonstrate this widely applicable use of PCR for the detection of DNA polymorphism at cytosine phosphoguanadine dinucleotides irrespective of the methylation status.</abstract><cop>London</cop><pub>Lancet</pub><pmid>2564457</pmid><tpages>4</tpages></addata></record> |
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| identifier | ISSN: 0140-6736 |
| ispartof | The Lancet (British edition), 1989-03, Vol.1 (8639), p.631-634 |
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| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Alleles Base Sequence Biological and medical sciences Dinucleoside Phosphates - genetics DNA-Directed DNA Polymerase Factor IX - analysis Factor IX - genetics Genetic Carrier Screening Genetic Linkage Genetic Markers Genotype Haplotypes Hematologic and hematopoietic diseases Hemophilia B - genetics Humans Medical sciences Molecular Sequence Data Pedigree Platelet diseases and coagulopathies Polymorphism, Genetic Polymorphism, Restriction Fragment Length Recombination, Genetic |
| title | Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers |
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