Ultrarapid metabolizers of debrisoquine: Characterization and PCR-based detection of alleles with duplication of the CYP2D6 gene
Up to 7% of Caucasians may demonstrate ultrarapid metabolism of debrisoquine due to inheritance of alleles with duplicated functional CYP2D6 genes. Here we describe the genomic organization of the duplicated CYP2D6 genes in the 42 kb XbaI allele. We postulate that this duplication originates from a...
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| Veröffentlicht in: | FEBS letters 1996-08, Vol.392 (1), p.30-34 |
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| creator | Løvlie, Roger Daly, Ann K. Molven, Anders Idle, Jeffrey R. Steen, Vidar M. |
| description | Up to 7% of Caucasians may demonstrate ultrarapid metabolism of debrisoquine due to inheritance of alleles with duplicated functional
CYP2D6 genes. Here we describe the genomic organization of the duplicated
CYP2D6 genes in the 42 kb
XbaI allele. We postulate that this duplication originates from a homologous, unequal cross-over event which involved two 29 kb
XbaI wild-type alleles, and had break points within a 2.8 kb direct repeat (CYP-REP) flanking the
CYP2D6 gene. Moreover, we have designed two different PCR assays for detection of alleles with duplicated
CYP2D6 genes. Both assays correctly identified 29 out of 29 subjects positive for the 42 kb
XbaI allele. No false negative or false positive reactions were observed. |
| doi_str_mv | 10.1016/0014-5793(96)00779-X |
| format | Article |
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CYP2D6 genes. Here we describe the genomic organization of the duplicated
CYP2D6 genes in the 42 kb
XbaI allele. We postulate that this duplication originates from a homologous, unequal cross-over event which involved two 29 kb
XbaI wild-type alleles, and had break points within a 2.8 kb direct repeat (CYP-REP) flanking the
CYP2D6 gene. Moreover, we have designed two different PCR assays for detection of alleles with duplicated
CYP2D6 genes. Both assays correctly identified 29 out of 29 subjects positive for the 42 kb
XbaI allele. No false negative or false positive reactions were observed.</description><identifier>ISSN: 0014-5793</identifier><identifier>EISSN: 1873-3468</identifier><identifier>DOI: 10.1016/0014-5793(96)00779-X</identifier><identifier>PMID: 8769309</identifier><language>eng</language><publisher>England: Elsevier B.V</publisher><subject>Alleles ; Base Sequence ; Crossing Over, Genetic ; CYP ; CYP2D6 genotyping ; Cytochrome P-450 CYP2D6 ; Cytochrome P-450 Enzyme System - genetics ; cytochrome P450 ; Debrisoquin - metabolism ; Debrisoquine 4-hydroxylase ; DNA ; Gene duplication ; Humans ; Long-PCR ; metabolic ratio ; Mixed Function Oxygenases - genetics ; Molecular Sequence Data ; Multigene Family ; Polymerase Chain Reaction - methods ; poor metabolizer ; restriction fragment length polymorphism ; RFLP ; Ultrarapid metabolizer</subject><ispartof>FEBS letters, 1996-08, Vol.392 (1), p.30-34</ispartof><rights>1996</rights><rights>FEBS Letters 392 (1996) 1873-3468 © 2015 Federation of European Biochemical Societies</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c491X-b20a1d9d93b8540238f4207b1290ac0f57968d743cc943293f210283320cd9d53</citedby><cites>FETCH-LOGICAL-c491X-b20a1d9d93b8540238f4207b1290ac0f57968d743cc943293f210283320cd9d53</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1016%2F0014-5793%2896%2900779-X$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/001457939600779X$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,1411,3537,27901,27902,45550,45551,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8769309$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Løvlie, Roger</creatorcontrib><creatorcontrib>Daly, Ann K.</creatorcontrib><creatorcontrib>Molven, Anders</creatorcontrib><creatorcontrib>Idle, Jeffrey R.</creatorcontrib><creatorcontrib>Steen, Vidar M.</creatorcontrib><title>Ultrarapid metabolizers of debrisoquine: Characterization and PCR-based detection of alleles with duplication of the CYP2D6 gene</title><title>FEBS letters</title><addtitle>FEBS Lett</addtitle><description>Up to 7% of Caucasians may demonstrate ultrarapid metabolism of debrisoquine due to inheritance of alleles with duplicated functional
CYP2D6 genes. Here we describe the genomic organization of the duplicated
CYP2D6 genes in the 42 kb
XbaI allele. We postulate that this duplication originates from a homologous, unequal cross-over event which involved two 29 kb
XbaI wild-type alleles, and had break points within a 2.8 kb direct repeat (CYP-REP) flanking the
CYP2D6 gene. Moreover, we have designed two different PCR assays for detection of alleles with duplicated
CYP2D6 genes. Both assays correctly identified 29 out of 29 subjects positive for the 42 kb
XbaI allele. No false negative or false positive reactions were observed.</description><subject>Alleles</subject><subject>Base Sequence</subject><subject>Crossing Over, Genetic</subject><subject>CYP</subject><subject>CYP2D6 genotyping</subject><subject>Cytochrome P-450 CYP2D6</subject><subject>Cytochrome P-450 Enzyme System - genetics</subject><subject>cytochrome P450</subject><subject>Debrisoquin - metabolism</subject><subject>Debrisoquine 4-hydroxylase</subject><subject>DNA</subject><subject>Gene duplication</subject><subject>Humans</subject><subject>Long-PCR</subject><subject>metabolic ratio</subject><subject>Mixed Function Oxygenases - genetics</subject><subject>Molecular Sequence Data</subject><subject>Multigene Family</subject><subject>Polymerase Chain Reaction - methods</subject><subject>poor metabolizer</subject><subject>restriction fragment length polymorphism</subject><subject>RFLP</subject><subject>Ultrarapid metabolizer</subject><issn>0014-5793</issn><issn>1873-3468</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNUU1rFDEYDqLUtfoPFHISe5g2H7P58FDQsVsLBYtYWE8hk7zjRrIzazLb0p786Wa6a4_iKbzPV_I-Qeg1JceUUHFCCK2rudT8nRZHhEipq-UTNKNK8orXQj1Fs0fJc_Qi55-kzIrqA3SgpNCc6Bn6fR3HZJPdBI_XMNp2iOEeUsZDhz20KeTh1zb08B43qyJzI6Rwb8cw9Nj2Hl81X6vWZvBFPIJ7wIvTxggRMr4N4wr77SYGZ_9y4wpw8_2KfRL4B_TwEj3rbMzwan8eouvF2bfmc3X55fyi-XBZuVrTZdUyYqnXXvNWzWvCuOpqRmRLmSbWka4sKZSXNXdO15xp3jFKmOKcEVdsc36I3u5yN6lsBHk065AdxGh7GLbZSMWEkHoS1juhS0POCTqzSWFt052hxEzFm6lVM7Vq9DSU4s2y2N7s87ftGvyjad904Rc7_jZEuPuvTLM4-8gmYsK1eECni053QVDaugmQTHYBegc-pPIDxg_h3y_9A7Nqpic</recordid><startdate>19960819</startdate><enddate>19960819</enddate><creator>Løvlie, Roger</creator><creator>Daly, Ann K.</creator><creator>Molven, Anders</creator><creator>Idle, Jeffrey R.</creator><creator>Steen, Vidar M.</creator><general>Elsevier B.V</general><scope>6I.</scope><scope>AAFTH</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>19960819</creationdate><title>Ultrarapid metabolizers of debrisoquine: Characterization and PCR-based detection of alleles with duplication of the CYP2D6 gene</title><author>Løvlie, Roger ; Daly, Ann K. ; Molven, Anders ; Idle, Jeffrey R. ; Steen, Vidar M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c491X-b20a1d9d93b8540238f4207b1290ac0f57968d743cc943293f210283320cd9d53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Alleles</topic><topic>Base Sequence</topic><topic>Crossing Over, Genetic</topic><topic>CYP</topic><topic>CYP2D6 genotyping</topic><topic>Cytochrome P-450 CYP2D6</topic><topic>Cytochrome P-450 Enzyme System - genetics</topic><topic>cytochrome P450</topic><topic>Debrisoquin - metabolism</topic><topic>Debrisoquine 4-hydroxylase</topic><topic>DNA</topic><topic>Gene duplication</topic><topic>Humans</topic><topic>Long-PCR</topic><topic>metabolic ratio</topic><topic>Mixed Function Oxygenases - genetics</topic><topic>Molecular Sequence Data</topic><topic>Multigene Family</topic><topic>Polymerase Chain Reaction - methods</topic><topic>poor metabolizer</topic><topic>restriction fragment length polymorphism</topic><topic>RFLP</topic><topic>Ultrarapid metabolizer</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Løvlie, Roger</creatorcontrib><creatorcontrib>Daly, Ann K.</creatorcontrib><creatorcontrib>Molven, Anders</creatorcontrib><creatorcontrib>Idle, Jeffrey R.</creatorcontrib><creatorcontrib>Steen, Vidar M.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</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>FEBS letters</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Løvlie, Roger</au><au>Daly, Ann K.</au><au>Molven, Anders</au><au>Idle, Jeffrey R.</au><au>Steen, Vidar M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ultrarapid metabolizers of debrisoquine: Characterization and PCR-based detection of alleles with duplication of the CYP2D6 gene</atitle><jtitle>FEBS letters</jtitle><addtitle>FEBS Lett</addtitle><date>1996-08-19</date><risdate>1996</risdate><volume>392</volume><issue>1</issue><spage>30</spage><epage>34</epage><pages>30-34</pages><issn>0014-5793</issn><eissn>1873-3468</eissn><abstract>Up to 7% of Caucasians may demonstrate ultrarapid metabolism of debrisoquine due to inheritance of alleles with duplicated functional
CYP2D6 genes. Here we describe the genomic organization of the duplicated
CYP2D6 genes in the 42 kb
XbaI allele. We postulate that this duplication originates from a homologous, unequal cross-over event which involved two 29 kb
XbaI wild-type alleles, and had break points within a 2.8 kb direct repeat (CYP-REP) flanking the
CYP2D6 gene. Moreover, we have designed two different PCR assays for detection of alleles with duplicated
CYP2D6 genes. Both assays correctly identified 29 out of 29 subjects positive for the 42 kb
XbaI allele. No false negative or false positive reactions were observed.</abstract><cop>England</cop><pub>Elsevier B.V</pub><pmid>8769309</pmid><doi>10.1016/0014-5793(96)00779-X</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; Elsevier ScienceDirect Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Alleles Base Sequence Crossing Over, Genetic CYP CYP2D6 genotyping Cytochrome P-450 CYP2D6 Cytochrome P-450 Enzyme System - genetics cytochrome P450 Debrisoquin - metabolism Debrisoquine 4-hydroxylase DNA Gene duplication Humans Long-PCR metabolic ratio Mixed Function Oxygenases - genetics Molecular Sequence Data Multigene Family Polymerase Chain Reaction - methods poor metabolizer restriction fragment length polymorphism RFLP Ultrarapid metabolizer |
| title | Ultrarapid metabolizers of debrisoquine: Characterization and PCR-based detection of alleles with duplication of the CYP2D6 gene |
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