Non-syndromic cleft lip/palate malformation (CL/P) is one of the most common birth defects in humans and has a complex etiology involving genetic and environmental factors. Mutations in the MSX1 gene are critical during craniofacial development. The purpose of this study was to investigate the contribution of MSX1 gene polymorphisms to the risk of developing CL/P in a sample of Mexican patients.The sample consisted of 282 subjects (69 cases and 213 relatives). Four single-nucleotide polymorphisms (SNP1, P147Q, SNP5 and P278S) were tested for association with CL/P in triad and case-pseudo-control analyses. Polymorphism typing was performed by restriction fragment length polymorphism and dot-blot techniques. Allele and genotype frequencies were calculated between patients and pseudo-controls and compared using the Chi square test with Yates correction. Odds ratios and 95

作者：Aurora, Ibarra-Arce；Tania, Albavera-Giles；Beatriz, Zavaleta-Villa；Gabriela, Ortiz de Zárate-Alarcón；Laura, Flores-Pe?a；María Del Carmen, Sierra-Romero；Mirza, Romero-Valdovinos；Angélica, Olivo-Díaz

来源：International journal of pediatric otorhinolaryngology 2016 年 90卷