ANÁLISIS MOLECULAR DE SONIC HEDGEHOG (SHH) EN LA ETIOLOGÍA DE LA FISURA LABIOPALATINA NO SINDRÓMICA EN TRÍOS CASO-PROGENITORES CHILENOS/MOLECULAR ANALYSIS OF SONIC HEDGEHOG (SHH) IN THE ETIOLOGY OF NONSYNDROMIC CLEFT LIP AND PALATE IN CHILEAN CASE-PARENT TRIOS

• Published in: Revista de la Facultad de Odontología Universidad de Antioquia 2012-07, Vol.24 (1), p.110
• Main Authors: Rincón, Ramiro J R, Suazo, José, Blanco, Rafael C
• Format: Article
• Language: eng ; spa
• ISSN: 0121-246X; 2145-7670

Nonsyndromic cleft lip and palate (NSCLP) is one of the most common congenital malformations not only in Chile but also worldwide. It has a multifactorial inheritance pattern with interaction of several genes and the environment. Several experimental studies have proven the participation of Sonic hedgedhog (Shh) in the migration process of cells from the neural crest, in the epithelium-mesenchyme transformation, and in the formation of middle craniofacial structures during embryo development; an association between Shh variants and NSCLP is probable. The goal of this study was to evaluate both exonic and intronic regions adjacent to Shh, in a sample of 150 case-parent trios in order to find possible associations with NSCLP. The PCR-RFLP method was used to determine the presence of heteroduplex. Afterwards, the Conformation Sensitive Gel Electrophoresis (CSGE) technique was used to visualize DNA distortion at the heteroduplexes. No heteroduplexes were found in any of the analyzed Shh segments in 150 trios; SNP analysis did not show associations between Shh and NSCLP either.