Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate
Mutations of the MSX1 gene may contribute to non-syndromic forms of cleft lip and/or cleft palate. To search for mutations of MSX1 coding regions, including one highly conserved non-coding region in the single intron, among Chilean patients with cleft lip/palate. We studied 45 patients with cleft li...
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| Veröffentlicht in: | Revista medíca de Chile 2004-07, Vol.132 (7), p.816-822 |
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| creator | Vieira, Alexandre R Castillo Taucher, Silvia Aravena, Teresa Astete, Carmen Sanz, Patricia Tastets, Maía Eugenia Monasterio, Luis Murray, Jeffrey C |
| description | Mutations of the MSX1 gene may contribute to non-syndromic forms of cleft lip and/or cleft palate.
To search for mutations of MSX1 coding regions, including one highly conserved non-coding region in the single intron, among Chilean patients with cleft lip/palate.
We studied 45 patients with cleft lip/palate and their parents. Oral mucosa samples were obtained with a swab. DNA was extracted and amplified by PCR.
Two missense mutations (G16D and G34A) were identified in this study that may be useful for future admixture studies. The G16D mutation appears to disrupt a possible splicing site and may contribute to clefting in this population.
Rare MSX1 mutations are found in some cases of cleft lip and/or cleft palate but others remain to be found most likely in other regulatory regions of the gene. |
| format | Article |
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To search for mutations of MSX1 coding regions, including one highly conserved non-coding region in the single intron, among Chilean patients with cleft lip/palate.
We studied 45 patients with cleft lip/palate and their parents. Oral mucosa samples were obtained with a swab. DNA was extracted and amplified by PCR.
Two missense mutations (G16D and G34A) were identified in this study that may be useful for future admixture studies. The G16D mutation appears to disrupt a possible splicing site and may contribute to clefting in this population.
Rare MSX1 mutations are found in some cases of cleft lip and/or cleft palate but others remain to be found most likely in other regulatory regions of the gene.</description><identifier>ISSN: 0034-9887</identifier><identifier>PMID: 15379328</identifier><language>spa</language><publisher>Chile</publisher><subject>Chile ; Cleft Lip - genetics ; Cleft Palate - genetics ; DNA Mutational Analysis ; Gene Frequency ; Genes, Homeobox - genetics ; Homeodomain Proteins - genetics ; Humans ; MSX1 Transcription Factor ; Mutation - genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Transcription Factors - genetics</subject><ispartof>Revista medíca de Chile, 2004-07, Vol.132 (7), p.816-822</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15379328$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Vieira, Alexandre R</creatorcontrib><creatorcontrib>Castillo Taucher, Silvia</creatorcontrib><creatorcontrib>Aravena, Teresa</creatorcontrib><creatorcontrib>Astete, Carmen</creatorcontrib><creatorcontrib>Sanz, Patricia</creatorcontrib><creatorcontrib>Tastets, Maía Eugenia</creatorcontrib><creatorcontrib>Monasterio, Luis</creatorcontrib><creatorcontrib>Murray, Jeffrey C</creatorcontrib><title>Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate</title><title>Revista medíca de Chile</title><addtitle>Rev Med Chil</addtitle><description>Mutations of the MSX1 gene may contribute to non-syndromic forms of cleft lip and/or cleft palate.
To search for mutations of MSX1 coding regions, including one highly conserved non-coding region in the single intron, among Chilean patients with cleft lip/palate.
We studied 45 patients with cleft lip/palate and their parents. Oral mucosa samples were obtained with a swab. DNA was extracted and amplified by PCR.
Two missense mutations (G16D and G34A) were identified in this study that may be useful for future admixture studies. The G16D mutation appears to disrupt a possible splicing site and may contribute to clefting in this population.
Rare MSX1 mutations are found in some cases of cleft lip and/or cleft palate but others remain to be found most likely in other regulatory regions of the gene.</description><subject>Chile</subject><subject>Cleft Lip - genetics</subject><subject>Cleft Palate - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Gene Frequency</subject><subject>Genes, Homeobox - genetics</subject><subject>Homeodomain Proteins - genetics</subject><subject>Humans</subject><subject>MSX1 Transcription Factor</subject><subject>Mutation - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic</subject><subject>Transcription Factors - genetics</subject><issn>0034-9887</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kD1PwzAURT2AaCn8BfQmBEOEHTu2M6KIL6kVAyCxRU7y0rhy4lA7gv57IlGWe5dzz3BPyJJSLpJca7Ug5yHsKE2VZPqMLFjGVc5TvSS7zRRNtH4wDswch2AD-BZih9BPoXYIAbc9DhE636Ov_A9scUBgcLN5-2S3YAcoOuvQDDDOppkM8G1jB_O2jeDseDcaZyJekNPWuICXx16Rj8eH9-I5Wb8-vRT362RkPI-JNpi3VYNUNVwwmss0r2vGa97IzCByKppMtBVNqdBKZoyzzGg0rVBGIJOKr8j1n3fc-68JQyx7G2p0zgzop1BKqXOhMz6DV0dwqnpsynFve7M_lP_v8F_UXF_a</recordid><startdate>200407</startdate><enddate>200407</enddate><creator>Vieira, Alexandre R</creator><creator>Castillo Taucher, Silvia</creator><creator>Aravena, Teresa</creator><creator>Astete, Carmen</creator><creator>Sanz, Patricia</creator><creator>Tastets, Maía Eugenia</creator><creator>Monasterio, Luis</creator><creator>Murray, Jeffrey C</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200407</creationdate><title>Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate</title><author>Vieira, Alexandre R ; Castillo Taucher, Silvia ; Aravena, Teresa ; Astete, Carmen ; Sanz, Patricia ; Tastets, Maía Eugenia ; Monasterio, Luis ; Murray, Jeffrey C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p139t-8ae9fbde07d34109629cc13c3d65aee304d54fb020487651315a8eaf47a4e1673</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>spa</language><creationdate>2004</creationdate><topic>Chile</topic><topic>Cleft Lip - genetics</topic><topic>Cleft Palate - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Gene Frequency</topic><topic>Genes, Homeobox - genetics</topic><topic>Homeodomain Proteins - genetics</topic><topic>Humans</topic><topic>MSX1 Transcription Factor</topic><topic>Mutation - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic</topic><topic>Transcription Factors - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Vieira, Alexandre R</creatorcontrib><creatorcontrib>Castillo Taucher, Silvia</creatorcontrib><creatorcontrib>Aravena, Teresa</creatorcontrib><creatorcontrib>Astete, Carmen</creatorcontrib><creatorcontrib>Sanz, Patricia</creatorcontrib><creatorcontrib>Tastets, Maía Eugenia</creatorcontrib><creatorcontrib>Monasterio, Luis</creatorcontrib><creatorcontrib>Murray, Jeffrey C</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Revista medíca de Chile</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Vieira, Alexandre R</au><au>Castillo Taucher, Silvia</au><au>Aravena, Teresa</au><au>Astete, Carmen</au><au>Sanz, Patricia</au><au>Tastets, Maía Eugenia</au><au>Monasterio, Luis</au><au>Murray, Jeffrey C</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate</atitle><jtitle>Revista medíca de Chile</jtitle><addtitle>Rev Med Chil</addtitle><date>2004-07</date><risdate>2004</risdate><volume>132</volume><issue>7</issue><spage>816</spage><epage>822</epage><pages>816-822</pages><issn>0034-9887</issn><abstract>Mutations of the MSX1 gene may contribute to non-syndromic forms of cleft lip and/or cleft palate.
To search for mutations of MSX1 coding regions, including one highly conserved non-coding region in the single intron, among Chilean patients with cleft lip/palate.
We studied 45 patients with cleft lip/palate and their parents. Oral mucosa samples were obtained with a swab. DNA was extracted and amplified by PCR.
Two missense mutations (G16D and G34A) were identified in this study that may be useful for future admixture studies. The G16D mutation appears to disrupt a possible splicing site and may contribute to clefting in this population.
Rare MSX1 mutations are found in some cases of cleft lip and/or cleft palate but others remain to be found most likely in other regulatory regions of the gene.</abstract><cop>Chile</cop><pmid>15379328</pmid><tpages>7</tpages></addata></record> |
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| ispartof | Revista medíca de Chile, 2004-07, Vol.132 (7), p.816-822 |
| issn | 0034-9887 |
| language | spa |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Chile Cleft Lip - genetics Cleft Palate - genetics DNA Mutational Analysis Gene Frequency Genes, Homeobox - genetics Homeodomain Proteins - genetics Humans MSX1 Transcription Factor Mutation - genetics Polymerase Chain Reaction Polymorphism, Genetic Transcription Factors - genetics |
| title | Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate |
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