Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping
Genomic DNA from a patient with acute intermittent porphyria were analyzed by the polymerase chain reaction (PCR)-direct sequencing method. The patient was heterozygote for a point mutation G to C at the last position of exon 12 of the porphobilinogen deaminase (PBG-D) gene. Analysis of the cDNA fra...
Gespeichert in:
| Veröffentlicht in: | Human genetics 1993-12, Vol.92 (6), p.549-553 |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 553 |
|---|---|
| container_issue | 6 |
| container_start_page | 549 |
| container_title | Human genetics |
| container_volume | 92 |
| creator | DAIMON, M YAMATANI, K IGARASHI, M FUKASE, N OGAWA, A TOMINAGA, M SASAKI, H |
| description | Genomic DNA from a patient with acute intermittent porphyria were analyzed by the polymerase chain reaction (PCR)-direct sequencing method. The patient was heterozygote for a point mutation G to C at the last position of exon 12 of the porphobilinogen deaminase (PBG-D) gene. Analysis of the cDNA fragments amplified by PCR revealed that the patient has the abnormal PBG-D mRNA, which does not have exon 12 and exists in an approximately equal amount to the normal mRNA. |
| doi_str_mv | 10.1007/BF00420937 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_76131852</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>16833562</sourcerecordid><originalsourceid>FETCH-LOGICAL-c342t-72e347f181cb09b0a429e4369201d6c814bd9fbf756df3262fba46c36ad667943</originalsourceid><addsrcrecordid>eNqFkUFr3DAUhEVJSbdpL70XdAg5FNzoSbJkH5OlSQuBXpqzkeWnRIktuZIM3V-Qv12HXbbHnobHfDPwGEI-AfsKjOnL6xvGJGet0G_IBqTgFXAmTsiGCckqpUG_I-9zfmIM6pbXp-S04YrXIDfk5couBakPBdPkS8FQ6BzT_LhL3lBrlowD7XfU0FtaIt3SaSmm-BjWCMU_qwKn0dHyiPtc7P3oQ3zAQAc0kw8mI10vXBFTaMK8jCUf0_nZz7MPDx_IW2fGjB8Pekbub7792n6v7n7e_the3VVWSF4qzVFI7aAB27O2Z0byFqVQLWcwKNuA7IfW9U7XanBifdL1RiorlBmU0q0UZ-Ri3zun-HvBXLrJZ4vjaALGJXdagYCm5v8FQTVC1OoV_LIHbYo5J3TdnPxk0q4D1r3O0_2bZ4U_H1qXfsLhiB72WP3zg2-yNaNLJlifj5hoQClVi78FJZcW</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>16833562</pqid></control><display><type>article</type><title>Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping</title><source>MEDLINE</source><source>Springer Nature - Complete Springer Journals</source><creator>DAIMON, M ; YAMATANI, K ; IGARASHI, M ; FUKASE, N ; OGAWA, A ; TOMINAGA, M ; SASAKI, H</creator><creatorcontrib>DAIMON, M ; YAMATANI, K ; IGARASHI, M ; FUKASE, N ; OGAWA, A ; TOMINAGA, M ; SASAKI, H</creatorcontrib><description>Genomic DNA from a patient with acute intermittent porphyria were analyzed by the polymerase chain reaction (PCR)-direct sequencing method. The patient was heterozygote for a point mutation G to C at the last position of exon 12 of the porphobilinogen deaminase (PBG-D) gene. Analysis of the cDNA fragments amplified by PCR revealed that the patient has the abnormal PBG-D mRNA, which does not have exon 12 and exists in an approximately equal amount to the normal mRNA.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF00420937</identifier><identifier>PMID: 8262514</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Adult ; Alleles ; Base Sequence ; Biological and medical sciences ; Cytosine ; DNA - analysis ; DNA Primers ; Electrophoresis, Polyacrylamide Gel ; exons ; Exons - genetics ; Female ; genes ; Guanine ; Humans ; Hydroxymethylbilane Synthase - genetics ; man ; Medical sciences ; Metabolic diseases ; Molecular Sequence Data ; mutation ; Other metabolic disorders ; Pedigree ; Pigments (porphyrias, hyperbilirubinemias...) ; Point Mutation ; Polymerase Chain Reaction ; porphobilinogen deaminase ; porphyria ; Porphyria, Acute Intermittent - enzymology ; Porphyria, Acute Intermittent - genetics ; RNA, Messenger - genetics</subject><ispartof>Human genetics, 1993-12, Vol.92 (6), p.549-553</ispartof><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c342t-72e347f181cb09b0a429e4369201d6c814bd9fbf756df3262fba46c36ad667943</citedby><cites>FETCH-LOGICAL-c342t-72e347f181cb09b0a429e4369201d6c814bd9fbf756df3262fba46c36ad667943</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3816665$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8262514$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>DAIMON, M</creatorcontrib><creatorcontrib>YAMATANI, K</creatorcontrib><creatorcontrib>IGARASHI, M</creatorcontrib><creatorcontrib>FUKASE, N</creatorcontrib><creatorcontrib>OGAWA, A</creatorcontrib><creatorcontrib>TOMINAGA, M</creatorcontrib><creatorcontrib>SASAKI, H</creatorcontrib><title>Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>Genomic DNA from a patient with acute intermittent porphyria were analyzed by the polymerase chain reaction (PCR)-direct sequencing method. The patient was heterozygote for a point mutation G to C at the last position of exon 12 of the porphobilinogen deaminase (PBG-D) gene. Analysis of the cDNA fragments amplified by PCR revealed that the patient has the abnormal PBG-D mRNA, which does not have exon 12 and exists in an approximately equal amount to the normal mRNA.</description><subject>Adult</subject><subject>Alleles</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Cytosine</subject><subject>DNA - analysis</subject><subject>DNA Primers</subject><subject>Electrophoresis, Polyacrylamide Gel</subject><subject>exons</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>genes</subject><subject>Guanine</subject><subject>Humans</subject><subject>Hydroxymethylbilane Synthase - genetics</subject><subject>man</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Molecular Sequence Data</subject><subject>mutation</subject><subject>Other metabolic disorders</subject><subject>Pedigree</subject><subject>Pigments (porphyrias, hyperbilirubinemias...)</subject><subject>Point Mutation</subject><subject>Polymerase Chain Reaction</subject><subject>porphobilinogen deaminase</subject><subject>porphyria</subject><subject>Porphyria, Acute Intermittent - enzymology</subject><subject>Porphyria, Acute Intermittent - genetics</subject><subject>RNA, Messenger - genetics</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUFr3DAUhEVJSbdpL70XdAg5FNzoSbJkH5OlSQuBXpqzkeWnRIktuZIM3V-Qv12HXbbHnobHfDPwGEI-AfsKjOnL6xvGJGet0G_IBqTgFXAmTsiGCckqpUG_I-9zfmIM6pbXp-S04YrXIDfk5couBakPBdPkS8FQ6BzT_LhL3lBrlowD7XfU0FtaIt3SaSmm-BjWCMU_qwKn0dHyiPtc7P3oQ3zAQAc0kw8mI10vXBFTaMK8jCUf0_nZz7MPDx_IW2fGjB8Pekbub7792n6v7n7e_the3VVWSF4qzVFI7aAB27O2Z0byFqVQLWcwKNuA7IfW9U7XanBifdL1RiorlBmU0q0UZ-Ri3zun-HvBXLrJZ4vjaALGJXdagYCm5v8FQTVC1OoV_LIHbYo5J3TdnPxk0q4D1r3O0_2bZ4U_H1qXfsLhiB72WP3zg2-yNaNLJlifj5hoQClVi78FJZcW</recordid><startdate>19931201</startdate><enddate>19931201</enddate><creator>DAIMON, M</creator><creator>YAMATANI, K</creator><creator>IGARASHI, M</creator><creator>FUKASE, N</creator><creator>OGAWA, A</creator><creator>TOMINAGA, M</creator><creator>SASAKI, H</creator><general>Springer</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>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>19931201</creationdate><title>Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping</title><author>DAIMON, M ; YAMATANI, K ; IGARASHI, M ; FUKASE, N ; OGAWA, A ; TOMINAGA, M ; SASAKI, H</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c342t-72e347f181cb09b0a429e4369201d6c814bd9fbf756df3262fba46c36ad667943</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Adult</topic><topic>Alleles</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Cytosine</topic><topic>DNA - analysis</topic><topic>DNA Primers</topic><topic>Electrophoresis, Polyacrylamide Gel</topic><topic>exons</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>genes</topic><topic>Guanine</topic><topic>Humans</topic><topic>Hydroxymethylbilane Synthase - genetics</topic><topic>man</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Molecular Sequence Data</topic><topic>mutation</topic><topic>Other metabolic disorders</topic><topic>Pedigree</topic><topic>Pigments (porphyrias, hyperbilirubinemias...)</topic><topic>Point Mutation</topic><topic>Polymerase Chain Reaction</topic><topic>porphobilinogen deaminase</topic><topic>porphyria</topic><topic>Porphyria, Acute Intermittent - enzymology</topic><topic>Porphyria, Acute Intermittent - genetics</topic><topic>RNA, Messenger - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>DAIMON, M</creatorcontrib><creatorcontrib>YAMATANI, K</creatorcontrib><creatorcontrib>IGARASHI, M</creatorcontrib><creatorcontrib>FUKASE, N</creatorcontrib><creatorcontrib>OGAWA, A</creatorcontrib><creatorcontrib>TOMINAGA, M</creatorcontrib><creatorcontrib>SASAKI, H</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>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>DAIMON, M</au><au>YAMATANI, K</au><au>IGARASHI, M</au><au>FUKASE, N</au><au>OGAWA, A</au><au>TOMINAGA, M</au><au>SASAKI, H</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1993-12-01</date><risdate>1993</risdate><volume>92</volume><issue>6</issue><spage>549</spage><epage>553</epage><pages>549-553</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>Genomic DNA from a patient with acute intermittent porphyria were analyzed by the polymerase chain reaction (PCR)-direct sequencing method. The patient was heterozygote for a point mutation G to C at the last position of exon 12 of the porphobilinogen deaminase (PBG-D) gene. Analysis of the cDNA fragments amplified by PCR revealed that the patient has the abnormal PBG-D mRNA, which does not have exon 12 and exists in an approximately equal amount to the normal mRNA.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>8262514</pmid><doi>10.1007/BF00420937</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 1993-12, Vol.92 (6), p.549-553 |
| issn | 0340-6717 1432-1203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_76131852 |
| source | MEDLINE; Springer Nature - Complete Springer Journals |
| subjects | Adult Alleles Base Sequence Biological and medical sciences Cytosine DNA - analysis DNA Primers Electrophoresis, Polyacrylamide Gel exons Exons - genetics Female genes Guanine Humans Hydroxymethylbilane Synthase - genetics man Medical sciences Metabolic diseases Molecular Sequence Data mutation Other metabolic disorders Pedigree Pigments (porphyrias, hyperbilirubinemias...) Point Mutation Polymerase Chain Reaction porphobilinogen deaminase porphyria Porphyria, Acute Intermittent - enzymology Porphyria, Acute Intermittent - genetics RNA, Messenger - genetics |
| title | Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-24T02%3A17%3A11IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Acute%20intermittent%20porphyria%20caused%20by%20a%20G%20to%20C%20mutation%20in%20exon%2012%20of%20the%20porphobilinogen%20deaminase%20gene%20that%20results%20in%20exon%20skipping&rft.jtitle=Human%20genetics&rft.au=DAIMON,%20M&rft.date=1993-12-01&rft.volume=92&rft.issue=6&rft.spage=549&rft.epage=553&rft.pages=549-553&rft.issn=0340-6717&rft.eissn=1432-1203&rft.coden=HUGEDQ&rft_id=info:doi/10.1007/BF00420937&rft_dat=%3Cproquest_cross%3E16833562%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=16833562&rft_id=info:pmid/8262514&rfr_iscdi=true |