Paroxysmal nocturnal haemoglobinuria due to an 88 bp direct tandem repeat insertion in the PIG‐A gene
Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired stem cell abnormality which frequently develops in patients with aplastic anaemia. The disease is due to somatic mutations in the PIG‐A gene, and a variety of mutations have been reported. The majority are point mutations, or small insertions...
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| Veröffentlicht in: | British journal of haematology 1997-08, Vol.98 (2), p.289-291 |
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| container_title | British journal of haematology |
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| creator | Pavlu, J. Mortazavi, Y. Tooze, J. Marsh, J. C. W. Gordon‐Smith, E. C. Rutherford, T. R. |
| description | Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired stem cell abnormality which frequently develops in patients with aplastic anaemia. The disease is due to somatic mutations in the PIG‐A gene, and a variety of mutations have been reported. The majority are point mutations, or small insertions and deletions resulting in a frameshift. Previous insertions reported have all been within the range of 1–10 bp. We describe here a patient with PNH due to a large insertion of 88 bp; DNA sequencing showed this to be a tandem repeat of PIG‐A sequences. The same mutation could be found in granulocytes and lymphocytes, indicating a pluripotent stem cell origin. |
| doi_str_mv | 10.1046/j.1365-2141.1997.2343051.x |
| format | Article |
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Hemoglobinopathies ; aplastic anaemia ; Base Sequence ; Biological and medical sciences ; Diseases of red blood cells ; DNA sequencing ; DNA Transposable Elements - genetics ; Exons - genetics ; Female ; Glycosylphosphatidylinositols - genetics ; GPI‐anchored proteins ; Hematologic and hematopoietic diseases ; Hemoglobinuria, Paroxysmal - genetics ; Humans ; Medical sciences ; Membrane Proteins - genetics ; Middle Aged ; Molecular Sequence Data ; Mutation - genetics ; Polymerase Chain Reaction ; somatic mutation ; SSCP</subject><ispartof>British journal of haematology, 1997-08, Vol.98 (2), p.289-291</ispartof><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4504-46c87ef2caba7ffe9791083ddd9505d6711b3cfd016b3c092a6c949a52ba1ad73</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1046%2Fj.1365-2141.1997.2343051.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1046%2Fj.1365-2141.1997.2343051.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,1432,27922,27923,45572,45573,46407,46831</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2772156$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9266921$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Pavlu, J.</creatorcontrib><creatorcontrib>Mortazavi, Y.</creatorcontrib><creatorcontrib>Tooze, J.</creatorcontrib><creatorcontrib>Marsh, J. C. W.</creatorcontrib><creatorcontrib>Gordon‐Smith, E. C.</creatorcontrib><creatorcontrib>Rutherford, T. R.</creatorcontrib><title>Paroxysmal nocturnal haemoglobinuria due to an 88 bp direct tandem repeat insertion in the PIG‐A gene</title><title>British journal of haematology</title><addtitle>Br J Haematol</addtitle><description>Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired stem cell abnormality which frequently develops in patients with aplastic anaemia. The disease is due to somatic mutations in the PIG‐A gene, and a variety of mutations have been reported. The majority are point mutations, or small insertions and deletions resulting in a frameshift. Previous insertions reported have all been within the range of 1–10 bp. We describe here a patient with PNH due to a large insertion of 88 bp; DNA sequencing showed this to be a tandem repeat of PIG‐A sequences. The same mutation could be found in granulocytes and lymphocytes, indicating a pluripotent stem cell origin.</description><subject>Anemias. Hemoglobinopathies</subject><subject>aplastic anaemia</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Diseases of red blood cells</subject><subject>DNA sequencing</subject><subject>DNA Transposable Elements - genetics</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>Glycosylphosphatidylinositols - genetics</subject><subject>GPI‐anchored proteins</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hemoglobinuria, Paroxysmal - genetics</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Middle Aged</subject><subject>Molecular Sequence Data</subject><subject>Mutation - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>somatic mutation</subject><subject>SSCP</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVkMtq3DAUhkVpSCdpH6EgSunOjiRfZHVRSEObC4Fm0a7FsXScaLDlqWSTmV2gL5BnzJPUZszsszpH_N8viY-QT5ylnOXl2TrlWVkkguc85UrJVGR5xgqebt-Q1SF6S1aMMZlMleodOYlxzRifsWNyrERZKsFXxN1B6Le72EFLfW-GMfhpewDs-vu2r50fgwNqR6RDT8HTqnp5-ldvqHUBzUAH8BY7GnCDMFDnI4bB9X7a6PCA9O768uXp-Zzeo8f35KiBNuKHZZ6SPz9__L64Sm5_XV5fnN8mJi9YnuSlqSQ2wkANsmlQScVZlVlrVcEKW0rO68w0lvFymkwJKI3KFRSiBg5WZqfky_7eTej_jhgH3blosG3BYz9GLZXIJokz-HUPmtDHGLDRm-A6CDvNmZ4967WeZepZpp4968Wz3k7lj8srY92hPVQXsVP-eckhGmibAN64eMCElIIX5YR922OPrsXdKz6gv99czYf_uFybLg</recordid><startdate>199708</startdate><enddate>199708</enddate><creator>Pavlu, J.</creator><creator>Mortazavi, Y.</creator><creator>Tooze, J.</creator><creator>Marsh, J. C. W.</creator><creator>Gordon‐Smith, E. C.</creator><creator>Rutherford, T. R.</creator><general>Blackwell Science Ltd</general><general>Blackwell</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>199708</creationdate><title>Paroxysmal nocturnal haemoglobinuria due to an 88 bp direct tandem repeat insertion in the PIG‐A gene</title><author>Pavlu, J. ; Mortazavi, Y. ; Tooze, J. ; Marsh, J. C. W. ; Gordon‐Smith, E. C. ; Rutherford, T. R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4504-46c87ef2caba7ffe9791083ddd9505d6711b3cfd016b3c092a6c949a52ba1ad73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Anemias. Hemoglobinopathies</topic><topic>aplastic anaemia</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Diseases of red blood cells</topic><topic>DNA sequencing</topic><topic>DNA Transposable Elements - genetics</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>Glycosylphosphatidylinositols - genetics</topic><topic>GPI‐anchored proteins</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hemoglobinuria, Paroxysmal - genetics</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Middle Aged</topic><topic>Molecular Sequence Data</topic><topic>Mutation - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>somatic mutation</topic><topic>SSCP</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Pavlu, J.</creatorcontrib><creatorcontrib>Mortazavi, Y.</creatorcontrib><creatorcontrib>Tooze, J.</creatorcontrib><creatorcontrib>Marsh, J. C. W.</creatorcontrib><creatorcontrib>Gordon‐Smith, E. C.</creatorcontrib><creatorcontrib>Rutherford, T. R.</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>British journal of haematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Pavlu, J.</au><au>Mortazavi, Y.</au><au>Tooze, J.</au><au>Marsh, J. C. W.</au><au>Gordon‐Smith, E. C.</au><au>Rutherford, T. R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Paroxysmal nocturnal haemoglobinuria due to an 88 bp direct tandem repeat insertion in the PIG‐A gene</atitle><jtitle>British journal of haematology</jtitle><addtitle>Br J Haematol</addtitle><date>1997-08</date><risdate>1997</risdate><volume>98</volume><issue>2</issue><spage>289</spage><epage>291</epage><pages>289-291</pages><issn>0007-1048</issn><eissn>1365-2141</eissn><coden>BJHEAL</coden><abstract>Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired stem cell abnormality which frequently develops in patients with aplastic anaemia. The disease is due to somatic mutations in the PIG‐A gene, and a variety of mutations have been reported. The majority are point mutations, or small insertions and deletions resulting in a frameshift. Previous insertions reported have all been within the range of 1–10 bp. 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| source | MEDLINE; Wiley Online Library Free Content; EZB-FREE-00999 freely available EZB journals; Wiley Online Library All Journals |
| subjects | Anemias. Hemoglobinopathies aplastic anaemia Base Sequence Biological and medical sciences Diseases of red blood cells DNA sequencing DNA Transposable Elements - genetics Exons - genetics Female Glycosylphosphatidylinositols - genetics GPI‐anchored proteins Hematologic and hematopoietic diseases Hemoglobinuria, Paroxysmal - genetics Humans Medical sciences Membrane Proteins - genetics Middle Aged Molecular Sequence Data Mutation - genetics Polymerase Chain Reaction somatic mutation SSCP |
| title | Paroxysmal nocturnal haemoglobinuria due to an 88 bp direct tandem repeat insertion in the PIG‐A gene |
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