INVESTIGATING THE STATUS OF SINGLE NUCLEOTIDE POLYMORPHISM RS 2235373 IN IRF 6 GENE IN NON SYNDROMIC CLEFT LIP AND PALATE

Abstract

Background: Non syndromic Cleft lip and palate NSCLP is a congenital abnormality that develops during intrauterine life. Interferon regulatory factor IRF 6 is a gene associated with NSCLP.  Parental ABO blood group analysis may serve as genetic marker regarding this anomaly. Objectives: To assess the relationship of Single nucleotide polymorphism SNP rs 2235373 parental   blood groups in NSCLP. Methods: In the current study, 60 NSCLP patients and their 60 unaffected parents were included. DNA isolation, Polymerase Chain Reaction PCR and Sequencing of rs 2235373 of IRF 6 was done on blood samples of NSCLP cases. Blood grouping of the parents was done by Slide agglutination method. Results:  Polymorphism was found in rs 2235373 G > A genotype. A striking feature included Rh Positivity with B and A blood types in father and mother respectively. However, there was an insignificant association among SNP rs 2235373 and parental ABO blood groups. Conclusion: The findings of the present study exhibited polymorphism rs 2235373 in IRF 6 in NSCLP, however may not be independently associated with parental ABO blood types.