Show simple item record

Authordc.contributor.authorSuazo, José 
Authordc.contributor.authorSantos, José Luis 
Authordc.contributor.authorJara, Lilian 
Authordc.contributor.authorBlanco, Rafael 
Admission datedc.date.accessioned2019-03-11T13:00:08Z
Available datedc.date.available2019-03-11T13:00:08Z
Publication datedc.date.issued2010
Cita de ítemdc.identifier.citationAmerican Journal of Medical Genetics, Part A, Volumen 152, Issue 8, 2018, Pages 2011-2016
Identifierdc.identifier.issn15524825
Identifierdc.identifier.issn15524833
Identifierdc.identifier.other10.1002/ajmg.a.33528
Identifierdc.identifier.urihttps://repositorio.uchile.cl/handle/2250/165043
Abstractdc.description.abstractBased on association and sequencing studies, investigators have postulated muscle segment homeobox 1 (MSX1) as a strong candidate gene involved in the causation of nonsyndromic cleft lip with or without cleft palate (NSCLP). Parent-of-origin effects have been suggested for some NSCLP candidate genes but not for MSX1. The aims of the present study were to test for allele/haplotype associations applying the transmission disequilibrium test (TDT) and the transmission asymmetry test (TAT) to evaluate the possible parent-of-origin effects of MSX1 in Chilean patients with NSCLP. We analyzed five SNPs (rs6446693/c.-425G>T/c.-35G>A/rs3775261/rs12532) located from 6.3 kb upstream to 3′ UTR in a sample of 150 unrelated NSCLP case-parent trios. Four haplotypes showed overtransmission from parents to affected progeny, but individual SNPs did not. Two haplotypes presented allele combination C-G-A-G (P=0.035) and two T-G-C-A (P=0.044) (SNP order rs6446693/c.-35G>A/rs3775261/ rs12532). The rs12532 A
Lenguagedc.language.isoen
Type of licensedc.rightsAttribution-NonCommercial-NoDerivs 3.0 Chile
Link to Licensedc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/cl/
Sourcedc.sourceAmerican Journal of Medical Genetics, Part A
Keywordsdc.subjectAssociation
Keywordsdc.subjectMSX1
Keywordsdc.subjectNon-syndromic cleft lip/palate
Keywordsdc.subjectParent-of-origin effects
Títulodc.titleParent-of-origin effects for MSX1 in a Chilean population with nonsyndromic cleft lip/palate
Document typedc.typeArtículo de revista
Catalogueruchile.catalogadorSCOPUS
Indexationuchile.indexArtículo de publicación SCOPUS
uchile.cosechauchile.cosechaSI


Files in this item

Icon

This item appears in the following Collection(s)

Show simple item record

Attribution-NonCommercial-NoDerivs 3.0 Chile
Except where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivs 3.0 Chile