Screening of RET gene mutations in multiple endocrine neoplasia type-2 using conformation sensitive gel electrophoresis (CSGE)
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant inherited tumor syndrome caused by RET proto-oncogene germline mutations (RET). Here we tested the Conformation Sensitive Gel Electrophoresis (CSGE) as a screening method for RET hot-spot mutations. Seven MEN2 families were studied...
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| Veröffentlicht in: | Arquivos brasileiros de endocrinologia e metabologia 2007-12, Vol.51 (9), p.1468-1476 |
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| container_title | Arquivos brasileiros de endocrinologia e metabologia |
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| creator | Santos, Marcelo A C G dos Quedas, Elisangela Pereira de S Toledo, Rodrigo de Almeida Lourenço, Jr, Delmar M Toledo, Sergio Pereira de A |
| description | Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant inherited tumor syndrome caused by RET proto-oncogene germline mutations (RET). Here we tested the Conformation Sensitive Gel Electrophoresis (CSGE) as a screening method for RET hot-spot mutations. Seven MEN2 families were studied by direct sequencing analysis, CSGE and Single Strand Conformational Polymorphism (SSCP). Using CSGE/SSCP, we were able to detect four out of five types of RET mutations verified by sequencing analysis: Cys620Arg, Cys634Arg, Cys634Tyr, and Met918Thr, furthermore a missense substitution at codon 648 (Val648Ile). RET polymorphisms 691 and 769 were also verified. Data obtained using CSGE/SSCP were fully concordant. We conclude that CSGE showed to be a sensitive, fast, low-cost, and simple procedure to detect RET mutations in codons which are reported as the most prevalent RET variants (approximately 95%) in large MEN2 series. As to the Val804Met mutation, this method still needs to be optimized. |
| doi_str_mv | 10.1590/S0004-27302007000900009 |
| format | Article |
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Here we tested the Conformation Sensitive Gel Electrophoresis (CSGE) as a screening method for RET hot-spot mutations. Seven MEN2 families were studied by direct sequencing analysis, CSGE and Single Strand Conformational Polymorphism (SSCP). Using CSGE/SSCP, we were able to detect four out of five types of RET mutations verified by sequencing analysis: Cys620Arg, Cys634Arg, Cys634Tyr, and Met918Thr, furthermore a missense substitution at codon 648 (Val648Ile). RET polymorphisms 691 and 769 were also verified. Data obtained using CSGE/SSCP were fully concordant. We conclude that CSGE showed to be a sensitive, fast, low-cost, and simple procedure to detect RET mutations in codons which are reported as the most prevalent RET variants (approximately 95%) in large MEN2 series. As to the Val804Met mutation, this method still needs to be optimized.</description><identifier>ISSN: 0004-2730</identifier><identifier>ISSN: 1677-9487</identifier><identifier>EISSN: 0004-2730</identifier><identifier>DOI: 10.1590/S0004-27302007000900009</identifier><identifier>PMID: 18209889</identifier><language>eng</language><publisher>Brazil: Sociedade Brasileira de Endocrinologia e Metabologia</publisher><subject>DNA Mutational Analysis - methods ; Electrophoresis, Agar Gel - methods ; ENDOCRINOLOGY & METABOLISM ; Exons ; Genetic Testing ; Germ-Line Mutation - genetics ; Humans ; Multiple Endocrine Neoplasia Type 2a - genetics ; Polymorphism, Single-Stranded Conformational ; Proto-Oncogene Proteins c-ret - genetics ; Sensitivity and Specificity ; Sequence Analysis, DNA - methods</subject><ispartof>Arquivos brasileiros de endocrinologia e metabologia, 2007-12, Vol.51 (9), p.1468-1476</ispartof><rights>This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c399t-8256f64a00637a5e2aa1d254bcc1ad2676f019936db88c9570cef24a3c535de93</citedby><cites>FETCH-LOGICAL-c399t-8256f64a00637a5e2aa1d254bcc1ad2676f019936db88c9570cef24a3c535de93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18209889$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Santos, Marcelo A C G dos</creatorcontrib><creatorcontrib>Quedas, Elisangela Pereira de S</creatorcontrib><creatorcontrib>Toledo, Rodrigo de Almeida</creatorcontrib><creatorcontrib>Lourenço, Jr, Delmar M</creatorcontrib><creatorcontrib>Toledo, Sergio Pereira de A</creatorcontrib><title>Screening of RET gene mutations in multiple endocrine neoplasia type-2 using conformation sensitive gel electrophoresis (CSGE)</title><title>Arquivos brasileiros de endocrinologia e metabologia</title><addtitle>Arq Bras Endocrinol Metabol</addtitle><description>Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant inherited tumor syndrome caused by RET proto-oncogene germline mutations (RET). Here we tested the Conformation Sensitive Gel Electrophoresis (CSGE) as a screening method for RET hot-spot mutations. Seven MEN2 families were studied by direct sequencing analysis, CSGE and Single Strand Conformational Polymorphism (SSCP). Using CSGE/SSCP, we were able to detect four out of five types of RET mutations verified by sequencing analysis: Cys620Arg, Cys634Arg, Cys634Tyr, and Met918Thr, furthermore a missense substitution at codon 648 (Val648Ile). RET polymorphisms 691 and 769 were also verified. Data obtained using CSGE/SSCP were fully concordant. We conclude that CSGE showed to be a sensitive, fast, low-cost, and simple procedure to detect RET mutations in codons which are reported as the most prevalent RET variants (approximately 95%) in large MEN2 series. As to the Val804Met mutation, this method still needs to be optimized.</description><subject>DNA Mutational Analysis - methods</subject><subject>Electrophoresis, Agar Gel - methods</subject><subject>ENDOCRINOLOGY & METABOLISM</subject><subject>Exons</subject><subject>Genetic Testing</subject><subject>Germ-Line Mutation - genetics</subject><subject>Humans</subject><subject>Multiple Endocrine Neoplasia Type 2a - genetics</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Proto-Oncogene Proteins c-ret - genetics</subject><subject>Sensitivity and Specificity</subject><subject>Sequence Analysis, DNA - methods</subject><issn>0004-2730</issn><issn>1677-9487</issn><issn>0004-2730</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9UUtLxDAQDqL4_guak-ihOk2fOcqyPmBBcPVcsulUs6RJTVJhL_52W3dRQfAyD-Z7MDOEnMZwGWccruYAkEasSIABFEPDYQxbZP97sP2r3iMH3i8BWMo52yV7ccmAlyXfJx9z6RCNMi_UNvRx-kRf0CBt-yCCssZTZYZGB9VppGhqK50a5gZtp4VXgoZVhxGjvR8lpDWNde0XlXo0XgX1joOkpqhRBme7V-vQK0_PJ_Pb6cUR2WmE9ni8yYfk-Wb6NLmLZg-395PrWSQTzkNUsixv8lQA5EkhMmRCxDXL0oWUsahZXuQNxJwneb0oS8mzAiQ2LBWJzJKsRp4cksu1rpcKta2WtndmMKy-Dln9OeRAOFsTOmffevShapWXqLUYVu99VYzoGIoBWKyB0lnvHTZV51Qr3KqKoRp_9Y_FycaiX7RY__A2z0k-AdcYjaw</recordid><startdate>20071201</startdate><enddate>20071201</enddate><creator>Santos, Marcelo A C G dos</creator><creator>Quedas, Elisangela Pereira de S</creator><creator>Toledo, Rodrigo de Almeida</creator><creator>Lourenço, Jr, Delmar M</creator><creator>Toledo, Sergio Pereira de A</creator><general>Sociedade Brasileira de Endocrinologia e Metabologia</general><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>GPN</scope></search><sort><creationdate>20071201</creationdate><title>Screening of RET gene mutations in multiple endocrine neoplasia type-2 using conformation sensitive gel electrophoresis (CSGE)</title><author>Santos, Marcelo A C G dos ; Quedas, Elisangela Pereira de S ; Toledo, Rodrigo de Almeida ; Lourenço, Jr, Delmar M ; Toledo, Sergio Pereira de A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c399t-8256f64a00637a5e2aa1d254bcc1ad2676f019936db88c9570cef24a3c535de93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>DNA Mutational Analysis - methods</topic><topic>Electrophoresis, Agar Gel - methods</topic><topic>ENDOCRINOLOGY & METABOLISM</topic><topic>Exons</topic><topic>Genetic Testing</topic><topic>Germ-Line Mutation - genetics</topic><topic>Humans</topic><topic>Multiple Endocrine Neoplasia Type 2a - genetics</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Proto-Oncogene Proteins c-ret - genetics</topic><topic>Sensitivity and Specificity</topic><topic>Sequence Analysis, DNA - methods</topic><toplevel>online_resources</toplevel><creatorcontrib>Santos, Marcelo A C G dos</creatorcontrib><creatorcontrib>Quedas, Elisangela Pereira de S</creatorcontrib><creatorcontrib>Toledo, Rodrigo de Almeida</creatorcontrib><creatorcontrib>Lourenço, Jr, Delmar M</creatorcontrib><creatorcontrib>Toledo, Sergio Pereira de A</creatorcontrib><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>SciELO</collection><jtitle>Arquivos brasileiros de endocrinologia e metabologia</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Santos, Marcelo A C G dos</au><au>Quedas, Elisangela Pereira de S</au><au>Toledo, Rodrigo de Almeida</au><au>Lourenço, Jr, Delmar M</au><au>Toledo, Sergio Pereira de A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Screening of RET gene mutations in multiple endocrine neoplasia type-2 using conformation sensitive gel electrophoresis (CSGE)</atitle><jtitle>Arquivos brasileiros de endocrinologia e metabologia</jtitle><addtitle>Arq Bras Endocrinol Metabol</addtitle><date>2007-12-01</date><risdate>2007</risdate><volume>51</volume><issue>9</issue><spage>1468</spage><epage>1476</epage><pages>1468-1476</pages><issn>0004-2730</issn><issn>1677-9487</issn><eissn>0004-2730</eissn><abstract>Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant inherited tumor syndrome caused by RET proto-oncogene germline mutations (RET). Here we tested the Conformation Sensitive Gel Electrophoresis (CSGE) as a screening method for RET hot-spot mutations. Seven MEN2 families were studied by direct sequencing analysis, CSGE and Single Strand Conformational Polymorphism (SSCP). Using CSGE/SSCP, we were able to detect four out of five types of RET mutations verified by sequencing analysis: Cys620Arg, Cys634Arg, Cys634Tyr, and Met918Thr, furthermore a missense substitution at codon 648 (Val648Ile). RET polymorphisms 691 and 769 were also verified. Data obtained using CSGE/SSCP were fully concordant. We conclude that CSGE showed to be a sensitive, fast, low-cost, and simple procedure to detect RET mutations in codons which are reported as the most prevalent RET variants (approximately 95%) in large MEN2 series. As to the Val804Met mutation, this method still needs to be optimized.</abstract><cop>Brazil</cop><pub>Sociedade Brasileira de Endocrinologia e Metabologia</pub><pmid>18209889</pmid><doi>10.1590/S0004-27302007000900009</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | DNA Mutational Analysis - methods Electrophoresis, Agar Gel - methods ENDOCRINOLOGY & METABOLISM Exons Genetic Testing Germ-Line Mutation - genetics Humans Multiple Endocrine Neoplasia Type 2a - genetics Polymorphism, Single-Stranded Conformational Proto-Oncogene Proteins c-ret - genetics Sensitivity and Specificity Sequence Analysis, DNA - methods |
| title | Screening of RET gene mutations in multiple endocrine neoplasia type-2 using conformation sensitive gel electrophoresis (CSGE) |
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