Porphobilmogen deaminase gene mutations in Brazilian acute intermittent porphyria patients
Acute intermittent porphyria (AIP) is an autosomal dominant disorder resulting from porphobilmogen deaminase (PBGD) deficiency. Seven unrelated Brazilian patients were investigated regarding PBGD gene mutations by polymerase chain reaction (PCR) and single strand conformation polymorphism (SSCP) ana...
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| Veröffentlicht in: | Journal of clinical laboratory analysis 2002, Vol.16 (5), p.259-265 |
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| creator | Ribeiro, Georgina Severo Marchiori, Paulo Eurípedes Kuntz Puglia, Paula Marzorati Nagai, Maria Aparecida dos Santos, Mariana Lopes Nonoyama, Kimiyo Hirata, Mário Hiroyuki Barretto, Orlando C.O. |
| description | Acute intermittent porphyria (AIP) is an autosomal dominant disorder resulting from porphobilmogen deaminase (PBGD) deficiency. Seven unrelated Brazilian patients were investigated regarding PBGD gene mutations by polymerase chain reaction (PCR) and single strand conformation polymorphism (SSCP) analysis followed by direct DNA sequencing. The PBG gene screening disclosed abnormal SSCP patterns in exons 7, 9, 12, 13, and 15, as well as in introns 3 and 10. Direct DNA sequencing revealed the occurrence of three nonsense mutations (R149X, R225X, and R325X) in exons 9, 12, and 15, respectively, and one missense mutation G111R in exon 7. The G111R mutation was detected in two unrelated patients. Intragenic polymorphisms (3119G/T in intron 2, 3581G/A in intron 3, 7052A/G and 7064C/A in intron 10, and −65C/T in exon 1) were also observed. In addition, two silent mutations (V202V in exon 10 and A266A in exon 13) were found. The latter has not heretofore been reported. Thus, this study revealed the mutations involved in Brazilian symptomatic AIP patients, as well as the intragenic polymorphisms found in the patients. J. Clin. Lab. Anal. 16:259–265, 2002. © 2002 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/jcla.10053 |
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Seven unrelated Brazilian patients were investigated regarding PBGD gene mutations by polymerase chain reaction (PCR) and single strand conformation polymorphism (SSCP) analysis followed by direct DNA sequencing. The PBG gene screening disclosed abnormal SSCP patterns in exons 7, 9, 12, 13, and 15, as well as in introns 3 and 10. Direct DNA sequencing revealed the occurrence of three nonsense mutations (R149X, R225X, and R325X) in exons 9, 12, and 15, respectively, and one missense mutation G111R in exon 7. The G111R mutation was detected in two unrelated patients. Intragenic polymorphisms (3119G/T in intron 2, 3581G/A in intron 3, 7052A/G and 7064C/A in intron 10, and −65C/T in exon 1) were also observed. In addition, two silent mutations (V202V in exon 10 and A266A in exon 13) were found. The latter has not heretofore been reported. Thus, this study revealed the mutations involved in Brazilian symptomatic AIP patients, as well as the intragenic polymorphisms found in the patients. J. Clin. Lab. Anal. 16:259–265, 2002. © 2002 Wiley‐Liss, Inc.</description><identifier>ISSN: 0887-8013</identifier><identifier>EISSN: 1098-2825</identifier><identifier>DOI: 10.1002/jcla.10053</identifier><identifier>PMID: 12357456</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>acute intermittent porphyria ; Brazil ; DNA Mutational Analysis ; Exons - genetics ; Humans ; Hydroxymethylbilane Synthase - genetics ; Mutation, Missense - genetics ; PBGD gene ; PCR-SSCP ; Polymerase Chain Reaction ; Porphyria, Acute Intermittent - genetics</subject><ispartof>Journal of clinical laboratory analysis, 2002, Vol.16 (5), p.259-265</ispartof><rights>Copyright © 2002 Wiley‐Liss, Inc.</rights><rights>Copyright 2002 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4543-56062f399e190e1663ab8acf877a8f02c541a73dfe92c406d99a7d6c4ecccb483</citedby><cites>FETCH-LOGICAL-c4543-56062f399e190e1663ab8acf877a8f02c541a73dfe92c406d99a7d6c4ecccb483</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6807732/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6807732/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,1411,4010,27900,27901,27902,45550,45551,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12357456$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ribeiro, Georgina Severo</creatorcontrib><creatorcontrib>Marchiori, Paulo Eurípedes</creatorcontrib><creatorcontrib>Kuntz Puglia, Paula Marzorati</creatorcontrib><creatorcontrib>Nagai, Maria Aparecida</creatorcontrib><creatorcontrib>dos Santos, Mariana Lopes</creatorcontrib><creatorcontrib>Nonoyama, Kimiyo</creatorcontrib><creatorcontrib>Hirata, Mário Hiroyuki</creatorcontrib><creatorcontrib>Barretto, Orlando C.O.</creatorcontrib><title>Porphobilmogen deaminase gene mutations in Brazilian acute intermittent porphyria patients</title><title>Journal of clinical laboratory analysis</title><addtitle>J. Clin. Lab. Anal</addtitle><description>Acute intermittent porphyria (AIP) is an autosomal dominant disorder resulting from porphobilmogen deaminase (PBGD) deficiency. Seven unrelated Brazilian patients were investigated regarding PBGD gene mutations by polymerase chain reaction (PCR) and single strand conformation polymorphism (SSCP) analysis followed by direct DNA sequencing. The PBG gene screening disclosed abnormal SSCP patterns in exons 7, 9, 12, 13, and 15, as well as in introns 3 and 10. Direct DNA sequencing revealed the occurrence of three nonsense mutations (R149X, R225X, and R325X) in exons 9, 12, and 15, respectively, and one missense mutation G111R in exon 7. The G111R mutation was detected in two unrelated patients. Intragenic polymorphisms (3119G/T in intron 2, 3581G/A in intron 3, 7052A/G and 7064C/A in intron 10, and −65C/T in exon 1) were also observed. In addition, two silent mutations (V202V in exon 10 and A266A in exon 13) were found. The latter has not heretofore been reported. Thus, this study revealed the mutations involved in Brazilian symptomatic AIP patients, as well as the intragenic polymorphisms found in the patients. J. Clin. Lab. Anal. 16:259–265, 2002. © 2002 Wiley‐Liss, Inc.</description><subject>acute intermittent porphyria</subject><subject>Brazil</subject><subject>DNA Mutational Analysis</subject><subject>Exons - genetics</subject><subject>Humans</subject><subject>Hydroxymethylbilane Synthase - genetics</subject><subject>Mutation, Missense - genetics</subject><subject>PBGD gene</subject><subject>PCR-SSCP</subject><subject>Polymerase Chain Reaction</subject><subject>Porphyria, Acute Intermittent - genetics</subject><issn>0887-8013</issn><issn>1098-2825</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kUtvEzEURi1ERdPChh-AZsUCaagf48dskEpEE2goSAUhsbFuPHdal3lhe4Dw65k0ocCGle3rc8-1_BHymNHnjFJ-cuMa2O6kuEdmjJYm54bL-2RGjdG5oUwckqMYbyilpmTqATlkXEhdSDUjn9_3Ybju175p-yvssgqh9R1EzKYTZu2YIPm-i5nvspcBfvrGQ5eBGxNOpYSh9Slhl7Jh69kED9kwdUyV-JAc1NBEfLRfj8nHs1cf5st89W7xen66yl0hC5FLRRWvRVkiKykypQSsDbjaaA2mptzJgoEWVY0ldwVVVVmCrpQr0Dm3Low4Ji923mFct1i5aXaAxg7BtxA2tgdv_73p_LW96r9ZZajWgk-Cp3tB6L-OGJNtfXTYNNBhP0arOSu4UnICn-1AF_oYA9Z3Qxi12yjsNgp7G8UEP_n7WX_Q_d9PANsB332Dm_-o7Jv56vS3NN_1-Jjwx10PhC9WaaGl_XSxsObycrm4OF_at-IXpQGmhg</recordid><startdate>2002</startdate><enddate>2002</enddate><creator>Ribeiro, Georgina Severo</creator><creator>Marchiori, Paulo Eurípedes</creator><creator>Kuntz Puglia, Paula Marzorati</creator><creator>Nagai, Maria Aparecida</creator><creator>dos Santos, Mariana Lopes</creator><creator>Nonoyama, Kimiyo</creator><creator>Hirata, Mário Hiroyuki</creator><creator>Barretto, Orlando C.O.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</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><scope>5PM</scope></search><sort><creationdate>2002</creationdate><title>Porphobilmogen deaminase gene mutations in Brazilian acute intermittent porphyria patients</title><author>Ribeiro, Georgina Severo ; Marchiori, Paulo Eurípedes ; Kuntz Puglia, Paula Marzorati ; Nagai, Maria Aparecida ; dos Santos, Mariana Lopes ; Nonoyama, Kimiyo ; Hirata, Mário Hiroyuki ; Barretto, Orlando C.O.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4543-56062f399e190e1663ab8acf877a8f02c541a73dfe92c406d99a7d6c4ecccb483</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>acute intermittent porphyria</topic><topic>Brazil</topic><topic>DNA Mutational Analysis</topic><topic>Exons - genetics</topic><topic>Humans</topic><topic>Hydroxymethylbilane Synthase - genetics</topic><topic>Mutation, Missense - genetics</topic><topic>PBGD gene</topic><topic>PCR-SSCP</topic><topic>Polymerase Chain Reaction</topic><topic>Porphyria, Acute Intermittent - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ribeiro, Georgina Severo</creatorcontrib><creatorcontrib>Marchiori, Paulo Eurípedes</creatorcontrib><creatorcontrib>Kuntz Puglia, Paula Marzorati</creatorcontrib><creatorcontrib>Nagai, Maria Aparecida</creatorcontrib><creatorcontrib>dos Santos, Mariana Lopes</creatorcontrib><creatorcontrib>Nonoyama, Kimiyo</creatorcontrib><creatorcontrib>Hirata, Mário Hiroyuki</creatorcontrib><creatorcontrib>Barretto, Orlando C.O.</creatorcontrib><collection>Istex</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><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of clinical laboratory analysis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ribeiro, Georgina Severo</au><au>Marchiori, Paulo Eurípedes</au><au>Kuntz Puglia, Paula Marzorati</au><au>Nagai, Maria Aparecida</au><au>dos Santos, Mariana Lopes</au><au>Nonoyama, Kimiyo</au><au>Hirata, Mário Hiroyuki</au><au>Barretto, Orlando C.O.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Porphobilmogen deaminase gene mutations in Brazilian acute intermittent porphyria patients</atitle><jtitle>Journal of clinical laboratory analysis</jtitle><addtitle>J. Clin. Lab. Anal</addtitle><date>2002</date><risdate>2002</risdate><volume>16</volume><issue>5</issue><spage>259</spage><epage>265</epage><pages>259-265</pages><issn>0887-8013</issn><eissn>1098-2825</eissn><abstract>Acute intermittent porphyria (AIP) is an autosomal dominant disorder resulting from porphobilmogen deaminase (PBGD) deficiency. Seven unrelated Brazilian patients were investigated regarding PBGD gene mutations by polymerase chain reaction (PCR) and single strand conformation polymorphism (SSCP) analysis followed by direct DNA sequencing. The PBG gene screening disclosed abnormal SSCP patterns in exons 7, 9, 12, 13, and 15, as well as in introns 3 and 10. Direct DNA sequencing revealed the occurrence of three nonsense mutations (R149X, R225X, and R325X) in exons 9, 12, and 15, respectively, and one missense mutation G111R in exon 7. The G111R mutation was detected in two unrelated patients. Intragenic polymorphisms (3119G/T in intron 2, 3581G/A in intron 3, 7052A/G and 7064C/A in intron 10, and −65C/T in exon 1) were also observed. In addition, two silent mutations (V202V in exon 10 and A266A in exon 13) were found. The latter has not heretofore been reported. Thus, this study revealed the mutations involved in Brazilian symptomatic AIP patients, as well as the intragenic polymorphisms found in the patients. J. Clin. Lab. Anal. 16:259–265, 2002. © 2002 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>12357456</pmid><doi>10.1002/jcla.10053</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | acute intermittent porphyria Brazil DNA Mutational Analysis Exons - genetics Humans Hydroxymethylbilane Synthase - genetics Mutation, Missense - genetics PBGD gene PCR-SSCP Polymerase Chain Reaction Porphyria, Acute Intermittent - genetics |
| title | Porphobilmogen deaminase gene mutations in Brazilian acute intermittent porphyria patients |
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