New GABAA receptor alpha5 subunit gene polymorphism that may confound genotyping
We report the discovery of a new GABAA receptor alpha5 subunit gene polymorphism close to the polymorphism described by Glatt et al. (GT)5GCGTGC(GT)21. This new polymorphism is of great importance, because it means that non‐denaturing acrylamide gels used to separate the different alleles of the pol...
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| Veröffentlicht in: | American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2004-08, Vol.129B (1), p.27-28 |
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| container_title | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| container_volume | 129B |
| creator | Vaquero, C. Baca-Garcia, E. Diaz-Sastre, C. Perez-Rodriguez, M.M. Navio Acosta, M. Saiz-Ruiz, J. de Leon, J. Fernandez-Piqueras, J. |
| description | We report the discovery of a new GABAA receptor alpha5 subunit gene polymorphism close to the polymorphism described by Glatt et al. (GT)5GCGTGC(GT)21. This new polymorphism is of great importance, because it means that non‐denaturing acrylamide gels used to separate the different alleles of the polymorphism described by Glatt et al. cannot distinguish an allele with the sequence: (GT)4GCGTGC(GT)n from another allele with the sequence: (GT)4(GCGT)4GC(GT)n−6. These gel fragments are separated by size, which would be the same in these two cases. An alternative would be to use an analysis method that can detect base changes, for instance, single strand conformation polymorphism (SSCP) or denaturing gradient gel electrophoresis (DGGE). © 2004 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.b.30048 |
| format | Article |
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(GT)5GCGTGC(GT)21. This new polymorphism is of great importance, because it means that non‐denaturing acrylamide gels used to separate the different alleles of the polymorphism described by Glatt et al. cannot distinguish an allele with the sequence: (GT)4GCGTGC(GT)n from another allele with the sequence: (GT)4(GCGT)4GC(GT)n−6. These gel fragments are separated by size, which would be the same in these two cases. An alternative would be to use an analysis method that can detect base changes, for instance, single strand conformation polymorphism (SSCP) or denaturing gradient gel electrophoresis (DGGE). © 2004 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4841</identifier><identifier>EISSN: 1552-485X</identifier><identifier>DOI: 10.1002/ajmg.b.30048</identifier><identifier>PMID: 15274034</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Base Sequence ; Dinucleotide Repeats - genetics ; DNA - chemistry ; DNA - genetics ; DNA Mutational Analysis ; Electrophoresis, Polyacrylamide Gel ; GABA ; GABRA5 ; Genotype ; Humans ; polymorphism ; Polymorphism, Genetic ; Polymorphism, Single-Stranded Conformational ; Protein Subunits - genetics ; Receptors, GABA-A - genetics ; Spain</subject><ispartof>American journal of medical genetics. Part B, Neuropsychiatric genetics, 2004-08, Vol.129B (1), p.27-28</ispartof><rights>Copyright © 2004 Wiley‐Liss, Inc.</rights><rights>Copyright 2004 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.b.30048$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.b.30048$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15274034$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Vaquero, C.</creatorcontrib><creatorcontrib>Baca-Garcia, E.</creatorcontrib><creatorcontrib>Diaz-Sastre, C.</creatorcontrib><creatorcontrib>Perez-Rodriguez, M.M.</creatorcontrib><creatorcontrib>Navio Acosta, M.</creatorcontrib><creatorcontrib>Saiz-Ruiz, J.</creatorcontrib><creatorcontrib>de Leon, J.</creatorcontrib><creatorcontrib>Fernandez-Piqueras, J.</creatorcontrib><title>New GABAA receptor alpha5 subunit gene polymorphism that may confound genotyping</title><title>American journal of medical genetics. Part B, Neuropsychiatric genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We report the discovery of a new GABAA receptor alpha5 subunit gene polymorphism close to the polymorphism described by Glatt et al. (GT)5GCGTGC(GT)21. This new polymorphism is of great importance, because it means that non‐denaturing acrylamide gels used to separate the different alleles of the polymorphism described by Glatt et al. cannot distinguish an allele with the sequence: (GT)4GCGTGC(GT)n from another allele with the sequence: (GT)4(GCGT)4GC(GT)n−6. These gel fragments are separated by size, which would be the same in these two cases. An alternative would be to use an analysis method that can detect base changes, for instance, single strand conformation polymorphism (SSCP) or denaturing gradient gel electrophoresis (DGGE). © 2004 Wiley‐Liss, Inc.</description><subject>Base Sequence</subject><subject>Dinucleotide Repeats - genetics</subject><subject>DNA - chemistry</subject><subject>DNA - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Electrophoresis, Polyacrylamide Gel</subject><subject>GABA</subject><subject>GABRA5</subject><subject>Genotype</subject><subject>Humans</subject><subject>polymorphism</subject><subject>Polymorphism, Genetic</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Protein Subunits - genetics</subject><subject>Receptors, GABA-A - genetics</subject><subject>Spain</subject><issn>1552-4841</issn><issn>1552-485X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkMtOwzAQRS0EoqWwY428YpfixHGcLNMKUlB5LIpA3Vi2M2lT8iJOVPL39EVZzZXm3NHoIHRtk6FNiHMnV_liqIaUENc_QX2bMcdyffZ5esyu3UMXxqwIoYRxfo56NnO4S6jbR28vsMZROApDXIOGqilrLLNqKRk2rWqLtMELKABXZdblZV0tU5PjZikbnMsO67JIyraIt0zZdFVaLC7RWSIzA1eHOUDvD_ez8cSavkaP43Bqpc7mUSthMfe47QUBJCqWnPkOD6hj-zzRidKaUuVQrZXUgR8oBr4Te8DixKWgPO4DHaDb_d2qLr9bMI3IU6Mhy2QBZWuE53GXupubA3RzAFuVQyyqOs1l3Yk_BxuA7oF1mkH3vydi61ds_Qoldn5F-PQc7dKmZe1bqWng59iS9ZfwOOVMfLxEghM6ms_IRMzpL0G9ffM</recordid><startdate>20040815</startdate><enddate>20040815</enddate><creator>Vaquero, C.</creator><creator>Baca-Garcia, E.</creator><creator>Diaz-Sastre, C.</creator><creator>Perez-Rodriguez, M.M.</creator><creator>Navio Acosta, M.</creator><creator>Saiz-Ruiz, J.</creator><creator>de Leon, J.</creator><creator>Fernandez-Piqueras, J.</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>7X8</scope></search><sort><creationdate>20040815</creationdate><title>New GABAA receptor alpha5 subunit gene polymorphism that may confound genotyping</title><author>Vaquero, C. ; Baca-Garcia, E. ; Diaz-Sastre, C. ; Perez-Rodriguez, M.M. ; Navio Acosta, M. ; Saiz-Ruiz, J. ; de Leon, J. ; Fernandez-Piqueras, J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-i2048-f5d7671699efbda75827932187fcfbcc33b23ccbac989b5e82d6e5df43eb678e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Base Sequence</topic><topic>Dinucleotide Repeats - genetics</topic><topic>DNA - chemistry</topic><topic>DNA - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Electrophoresis, Polyacrylamide Gel</topic><topic>GABA</topic><topic>GABRA5</topic><topic>Genotype</topic><topic>Humans</topic><topic>polymorphism</topic><topic>Polymorphism, Genetic</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Protein Subunits - genetics</topic><topic>Receptors, GABA-A - genetics</topic><topic>Spain</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Vaquero, C.</creatorcontrib><creatorcontrib>Baca-Garcia, E.</creatorcontrib><creatorcontrib>Diaz-Sastre, C.</creatorcontrib><creatorcontrib>Perez-Rodriguez, M.M.</creatorcontrib><creatorcontrib>Navio Acosta, M.</creatorcontrib><creatorcontrib>Saiz-Ruiz, J.</creatorcontrib><creatorcontrib>de Leon, J.</creatorcontrib><creatorcontrib>Fernandez-Piqueras, J.</creatorcontrib><collection>Istex</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>American journal of medical genetics. 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This new polymorphism is of great importance, because it means that non‐denaturing acrylamide gels used to separate the different alleles of the polymorphism described by Glatt et al. cannot distinguish an allele with the sequence: (GT)4GCGTGC(GT)n from another allele with the sequence: (GT)4(GCGT)4GC(GT)n−6. These gel fragments are separated by size, which would be the same in these two cases. An alternative would be to use an analysis method that can detect base changes, for instance, single strand conformation polymorphism (SSCP) or denaturing gradient gel electrophoresis (DGGE). © 2004 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>15274034</pmid><doi>10.1002/ajmg.b.30048</doi><tpages>2</tpages></addata></record> |
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| source | Wiley Online Library - AutoHoldings Journals; MEDLINE |
| subjects | Base Sequence Dinucleotide Repeats - genetics DNA - chemistry DNA - genetics DNA Mutational Analysis Electrophoresis, Polyacrylamide Gel GABA GABRA5 Genotype Humans polymorphism Polymorphism, Genetic Polymorphism, Single-Stranded Conformational Protein Subunits - genetics Receptors, GABA-A - genetics Spain |
| title | New GABAA receptor alpha5 subunit gene polymorphism that may confound genotyping |
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