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Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio.
Moreno, Lina M; Arcos-Burgos, Mauricio; Marazita, Mary L; Krahn, Katherine; Maher, Brion S; Cooper, Margaret E; Valencia-Ramirez, Consuelo R; Lidral, Andrew C.
Afiliação
  • Moreno LM; Dows Institute for Dental Research, University of Iowa, Iowa City, Iowa 52242, USA.
Am J Med Genet A ; 125A(2): 135-44, 2004 Mar 01.
Article em En | MEDLINE | ID: mdl-14981713
Non-syndromic cleft lip with or without cleft palate (CL/P) is a genetically complex birth defect, with a prevalence from 1/500 to 1/1,000 live births. Evidence from linkage and linkage disequilibrium studies is contradictory suggesting that heterogeneity between study populations may exist. A recent report of a genome widescan in 92 sib pairs from the United Kingdom revealed suggestive linkage to 10 loci [Prescott et al., 2000]. The purpose of this study is to replicate those results and evaluate additional candidate genes in 49 Colombian and 13 Ohio families. Genotypes were obtained for STRPs at 1p36, 2p13 (TGFA), 4p16 (MSX1), 6p23-25, 6q25-27, 8q23-24, 11p12-q13, 12q13, 14q24 (TGFB3), 16q22-24, 17q12-21 (RARA), and Xcen-q21. Linkage was performed using parametric (dominant and recessive models) and non-parametric (GenehunterNPL and SimIBD) analyses. In addition, heterogeneity was analyzed using GenehunterHLOD, and association determined by the TDT. The Colombian families showed significant SimIBD results for 11p12-q13 (P = 0.034), 12q13 (P = 0.015), 16q22-24 (0.01), and 17q12-21 (0.009), while the Ohio families showed significant SimIBD results for 1p36 (P = 0.02), TGFA (P = 0.005), 6p23 (P = 0.004), 11p12-q13 (P = 0.048) and significant NPL results for TGFA (NPL = 3.01, P = 0.009), 4p16 (MNPL = 2.07, P = 0.03) and 12q13 (SNPL = 3.55, P = 0.007). Significant association results were obtained only for the Colombian families in the regions 1p36 (P = 0.046), 6p23-25 (P = 0.020), and 12q13 (P = 0.046). In addition several families yielded LOD scores ranging from 1.09 to 1.73, for loci at 4p16, 6p23-25, 16q22-24, and 17q13. These results confirm previous reports for these loci. However, the differences between the two populations suggest that population specific locus heterogeneity exists. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Marcadores Genéticos / Fenda Labial / Fissura Palatina / Predisposição Genética para Doença / Ligação Genética Tipo de estudo: Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: America do norte / America do sul / Colombia Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2004 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Marcadores Genéticos / Fenda Labial / Fissura Palatina / Predisposição Genética para Doença / Ligação Genética Tipo de estudo: Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: America do norte / America do sul / Colombia Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2004 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos