Abstract
Introduction: Cleft lip and palate (CLP) is a major congenital structural anomaly. Cleft lip and palate has significant complex etiology involving both genetic and environmental factors and lifelong morbidity. Mutations in various genes like TGFB3, RARA, IRF6 have been responsible for causing CLP in various populations.IRF6 gene provides instructions for making a protein interferon regulatory factor, which is active in cells that give rise to tissues in the craniofacial region. The mutations in IRF6 gene can lead to NSCLP, tooth agenesis, etc. Aims and objectives: This study was undertaken to evaluate the relationship and determine the degree of association of Interferon Regulatory Factor 6 (IRF6) (G820A) gene variant with nonsyndromic CLP (NSCLP) in South Indian population. IRF6 gene provides instructions for making a protein interferon regulatory factor, which is active in cells that give rise to tissues in the craniofacial region. The mutations in IRF6 gene can lead to NSCLP, tooth agenesis, etc. Materials and methods: The study group consisted of 50 samples who were patients at the department of orthodontics. The samples were divided into Group A with 25 cases having NSCLP and Group B with 25 controls. Two milliliter blood sample was collected from cases and controls each, for DNA isolation. Polymerase chain reaction (PCR) was carried for amplification followed by restriction fragment length polymorphism (RFLP) to assess the genotype of all individuals. z-test was applied for statistical analysis. Results: The study revealed significant differences in the frequency distributions of genotypes of IRF6 (G820A) variant when cases were compared with controls, with high GG genotype frequency in cases whereas GA and AA genotype of IRF6 (G820A) gene variant was found more in control samples. Conclusion: The results of this study further support the role of IRF6 (G820A) gene variants in NSCLP in South Indian population.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
