dc.creator | Suazo, José | |
dc.creator | Santos, José Luis | |
dc.creator | Jara, Lilian | |
dc.creator | Blanco, Rafael | |
dc.date.accessioned | 2019-03-11T13:00:08Z | |
dc.date.available | 2019-03-11T13:00:08Z | |
dc.date.created | 2019-03-11T13:00:08Z | |
dc.date.issued | 2010 | |
dc.identifier | American Journal of Medical Genetics, Part A, Volumen 152, Issue 8, 2018, Pages 2011-2016 | |
dc.identifier | 15524825 | |
dc.identifier | 15524833 | |
dc.identifier | 10.1002/ajmg.a.33528 | |
dc.identifier | https://repositorio.uchile.cl/handle/2250/165043 | |
dc.description.abstract | Based 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 | |
dc.language | en | |
dc.rights | http://creativecommons.org/licenses/by-nc-nd/3.0/cl/ | |
dc.rights | Attribution-NonCommercial-NoDerivs 3.0 Chile | |
dc.source | American Journal of Medical Genetics, Part A | |
dc.subject | Association | |
dc.subject | MSX1 | |
dc.subject | Non-syndromic cleft lip/palate | |
dc.subject | Parent-of-origin effects | |
dc.title | Parent-of-origin effects for MSX1 in a Chilean population with nonsyndromic cleft lip/palate | |
dc.type | Artículo de revista | |