Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35
ABSTRACT: Isolated or non syndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P from seven diverse populations (2,551 genotyped individuals) revealed CL/P genes in six chromosomal reg...
- Autores:
-
Marazita, Mary
Murray, Jeffrey
Lidral, Andrew
Arcos Burgos, Oscar Mauricio
Cooper, Margaret
Goldstein, Toby
Maher, Brion
Daack Hirsch, Sandra
Schultz, Rebecca
Mansilla, Maria Adela
Field, Leigh
Liu, You-e
Prescott, Natalie
Malcolm, Sue
Winter, Robin
Ray, Ajit
Moreno Uribe, Lina Moreno
Valencia Ramírez, Luz Consuelo
Neiswanger, Katherine
Wyszynski, Diego
Bailey Wilson, Joan
Albacha-Hejazi, Hasan
Beaty, Terri
McIntosh, Iain
Hetmanski, Jacqueline
Tunçbilek, Gökhan
Edwards, Matthew
Harkin, Louise
Scott, Rodney
Roddick, Laurence
- Tipo de recurso:
- Review article
- Fecha de publicación:
- 2004
- Institución:
- Universidad de Antioquia
- Repositorio:
- Repositorio UdeA
- Idioma:
- eng
- OAI Identifier:
- oai:bibliotecadigital.udea.edu.co:10495/26748
- Acceso en línea:
- http://hdl.handle.net/10495/26748
- Palabra clave:
- Cromosomas Humanos Par 2
Chromosomes, Human, Pair 2
Cromosomas Humanos Par 9
Chromosomes, Human, Pair 9
Labio Leporino - genética
Cleft Lip - genetics
Fisura del Paladar - genética
Cleft Palate - genetics
Ligamiento Genético
Genetic Linkage
Marcadores Genéticos
Genetic Markers
Predisposición Genética a la Enfermedad
Genetic Predisposition to Disease
- Rights
- openAccess
- License
- http://creativecommons.org/licenses/by-nc-nd/2.5/co/
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|
| dc.title.spa.fl_str_mv |
Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35 |
| title |
Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35 |
| spellingShingle |
Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35 Cromosomas Humanos Par 2 Chromosomes, Human, Pair 2 Cromosomas Humanos Par 9 Chromosomes, Human, Pair 9 Labio Leporino - genética Cleft Lip - genetics Fisura del Paladar - genética Cleft Palate - genetics Ligamiento Genético Genetic Linkage Marcadores Genéticos Genetic Markers Predisposición Genética a la Enfermedad Genetic Predisposition to Disease |
| title_short |
Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35 |
| title_full |
Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35 |
| title_fullStr |
Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35 |
| title_full_unstemmed |
Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35 |
| title_sort |
Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35 |
| dc.creator.fl_str_mv |
Marazita, Mary Murray, Jeffrey Lidral, Andrew Arcos Burgos, Oscar Mauricio Cooper, Margaret Goldstein, Toby Maher, Brion Daack Hirsch, Sandra Schultz, Rebecca Mansilla, Maria Adela Field, Leigh Liu, You-e Prescott, Natalie Malcolm, Sue Winter, Robin Ray, Ajit Moreno Uribe, Lina Moreno Valencia Ramírez, Luz Consuelo Neiswanger, Katherine Wyszynski, Diego Bailey Wilson, Joan Albacha-Hejazi, Hasan Beaty, Terri McIntosh, Iain Hetmanski, Jacqueline Tunçbilek, Gökhan Edwards, Matthew Harkin, Louise Scott, Rodney Roddick, Laurence |
| dc.contributor.author.none.fl_str_mv |
Marazita, Mary Murray, Jeffrey Lidral, Andrew Arcos Burgos, Oscar Mauricio Cooper, Margaret Goldstein, Toby Maher, Brion Daack Hirsch, Sandra Schultz, Rebecca Mansilla, Maria Adela Field, Leigh Liu, You-e Prescott, Natalie Malcolm, Sue Winter, Robin Ray, Ajit Moreno Uribe, Lina Moreno Valencia Ramírez, Luz Consuelo Neiswanger, Katherine Wyszynski, Diego Bailey Wilson, Joan Albacha-Hejazi, Hasan Beaty, Terri McIntosh, Iain Hetmanski, Jacqueline Tunçbilek, Gökhan Edwards, Matthew Harkin, Louise Scott, Rodney Roddick, Laurence |
| dc.subject.decs.none.fl_str_mv |
Cromosomas Humanos Par 2 Chromosomes, Human, Pair 2 Cromosomas Humanos Par 9 Chromosomes, Human, Pair 9 Labio Leporino - genética Cleft Lip - genetics Fisura del Paladar - genética Cleft Palate - genetics Ligamiento Genético Genetic Linkage Marcadores Genéticos Genetic Markers Predisposición Genética a la Enfermedad Genetic Predisposition to Disease |
| topic |
Cromosomas Humanos Par 2 Chromosomes, Human, Pair 2 Cromosomas Humanos Par 9 Chromosomes, Human, Pair 9 Labio Leporino - genética Cleft Lip - genetics Fisura del Paladar - genética Cleft Palate - genetics Ligamiento Genético Genetic Linkage Marcadores Genéticos Genetic Markers Predisposición Genética a la Enfermedad Genetic Predisposition to Disease |
| description |
ABSTRACT: Isolated or non syndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P from seven diverse populations (2,551 genotyped individuals) revealed CL/P genes in six chromosomal regions, including a novel region at 9q21 (heterogeneity LOD score ). In addition, meta-analyses with the addition of results from 186 more [HLOD] p 6.6 families (six populations; 1,033 genotyped individuals) showed genome wide significance for 10 more regions, including another novel region at 2q32-35 ( ). These are the first genome wide significant linkage results P p .0004 ever reported for CL/P, and they represent an unprecedented demonstration of the power of linkage analysis to detect multiple genes simultaneously for a complex disorder. |
| publishDate |
2004 |
| dc.date.issued.none.fl_str_mv |
2004 |
| dc.date.accessioned.none.fl_str_mv |
2022-03-19T21:10:51Z |
| dc.date.available.none.fl_str_mv |
2022-03-19T21:10:51Z |
| dc.type.spa.fl_str_mv |
info:eu-repo/semantics/article |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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info:eu-repo/semantics/publishedVersion |
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http://purl.org/coar/resource_type/c_dcae04bc |
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https://purl.org/redcol/resource_type/ARTREV |
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Artículo de revisión |
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http://purl.org/coar/resource_type/c_dcae04bc |
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publishedVersion |
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Marazita, M., Murray, J., Lidral, A., Arcos, M., Cooper, M. , Goldstein, T., Maher, B., Daack, S., Schultz, R., Mansilla, M., Field, L., Liu, Y. E., Prescott, N., Malcolm, S., Winter, R., Ray, A., Moreno, L., Valencia, C., Neiswanger, K., Wyszynski, D., … Roddick, L. G. (2004). Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. American journal of human genetics, 75(2), 161–173. https://doi.org/10.1086/422475 |
| dc.identifier.issn.none.fl_str_mv |
0002-9297 |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10495/26748 |
| dc.identifier.doi.none.fl_str_mv |
10.1086/422475 |
| dc.identifier.eissn.none.fl_str_mv |
1537-6605 |
| identifier_str_mv |
Marazita, M., Murray, J., Lidral, A., Arcos, M., Cooper, M. , Goldstein, T., Maher, B., Daack, S., Schultz, R., Mansilla, M., Field, L., Liu, Y. E., Prescott, N., Malcolm, S., Winter, R., Ray, A., Moreno, L., Valencia, C., Neiswanger, K., Wyszynski, D., … Roddick, L. G. (2004). Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. American journal of human genetics, 75(2), 161–173. https://doi.org/10.1086/422475 0002-9297 10.1086/422475 1537-6605 |
| url |
http://hdl.handle.net/10495/26748 |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
| dc.relation.ispartofjournalabbrev.spa.fl_str_mv |
Am. J. Hum. Genet. |
| dc.rights.spa.fl_str_mv |
info:eu-repo/semantics/openAccess |
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http://creativecommons.org/licenses/by-nc-nd/2.5/co/ |
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https://creativecommons.org/licenses/by-nc-nd/4.0/ |
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openAccess |
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http://creativecommons.org/licenses/by-nc-nd/2.5/co/ http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by-nc-nd/4.0/ |
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13 |
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application/pdf |
| dc.publisher.spa.fl_str_mv |
Cell Press |
| dc.publisher.group.spa.fl_str_mv |
Genética Regeneración y Cáncer |
| dc.publisher.place.spa.fl_str_mv |
Baltimore, Estados Unidos |
| institution |
Universidad de Antioquia |
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Marazita, MaryMurray, JeffreyLidral, AndrewArcos Burgos, Oscar MauricioCooper, MargaretGoldstein, TobyMaher, BrionDaack Hirsch, SandraSchultz, RebeccaMansilla, Maria AdelaField, LeighLiu, You-ePrescott, NatalieMalcolm, SueWinter, RobinRay, AjitMoreno Uribe, Lina MorenoValencia Ramírez, Luz ConsueloNeiswanger, KatherineWyszynski, DiegoBailey Wilson, JoanAlbacha-Hejazi, HasanBeaty, TerriMcIntosh, IainHetmanski, JacquelineTunçbilek, GökhanEdwards, MatthewHarkin, LouiseScott, RodneyRoddick, Laurence2022-03-19T21:10:51Z2022-03-19T21:10:51Z2004Marazita, M., Murray, J., Lidral, A., Arcos, M., Cooper, M. , Goldstein, T., Maher, B., Daack, S., Schultz, R., Mansilla, M., Field, L., Liu, Y. E., Prescott, N., Malcolm, S., Winter, R., Ray, A., Moreno, L., Valencia, C., Neiswanger, K., Wyszynski, D., … Roddick, L. G. (2004). Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. American journal of human genetics, 75(2), 161–173. https://doi.org/10.1086/4224750002-9297http://hdl.handle.net/10495/2674810.1086/4224751537-6605ABSTRACT: Isolated or non syndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P from seven diverse populations (2,551 genotyped individuals) revealed CL/P genes in six chromosomal regions, including a novel region at 9q21 (heterogeneity LOD score ). In addition, meta-analyses with the addition of results from 186 more [HLOD] p 6.6 families (six populations; 1,033 genotyped individuals) showed genome wide significance for 10 more regions, including another novel region at 2q32-35 ( ). These are the first genome wide significant linkage results P p .0004 ever reported for CL/P, and they represent an unprecedented demonstration of the power of linkage analysis to detect multiple genes simultaneously for a complex disorder.COL000676913application/pdfengCell PressGenética Regeneración y CáncerBaltimore, Estados Unidosinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_dcae04bchttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARTREVArtículo de revisiónhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-nd/2.5/co/http://purl.org/coar/access_right/c_abf2https://creativecommons.org/licenses/by-nc-nd/4.0/Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35Cromosomas Humanos Par 2Chromosomes, Human, Pair 2Cromosomas Humanos Par 9Chromosomes, Human, Pair 9Labio Leporino - genéticaCleft Lip - geneticsFisura del Paladar - genéticaCleft Palate - geneticsLigamiento GenéticoGenetic LinkageMarcadores GenéticosGenetic MarkersPredisposición Genética a la EnfermedadGenetic Predisposition to DiseaseAm. J. Hum. Genet.American Journal of Human Genetics161173752ORIGINALArcosMauricio_2004_AnalysisClefLipGenes.pdfArcosMauricio_2004_AnalysisClefLipGenes.pdfArtículo de revisiónapplication/pdf1514109http://bibliotecadigital.udea.edu.co/bitstream/10495/26748/1/ArcosMauricio_2004_AnalysisClefLipGenes.pdf3c324f4692768548c27b8c6c7cf1fff4MD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8823http://bibliotecadigital.udea.edu.co/bitstream/10495/26748/2/license_rdfb88b088d9957e670ce3b3fbe2eedbc13MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-81748http://bibliotecadigital.udea.edu.co/bitstream/10495/26748/3/license.txt8a4605be74aa9ea9d79846c1fba20a33MD5310495/26748oai:bibliotecadigital.udea.edu.co:10495/267482022-03-19 16:16:36.648Repositorio Institucional Universidad de Antioquiaandres.perez@udea.edu.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 |