Abstract
Abstract:
 Background: Cleft lip and palate are congenital disorders which induce affected individuals medically, socially and psychologically. The objective of this study was to investigate the association of Single Nucleotide Polymorphism(SNP); rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate.
 Materials and Methods: Fifty patients with non-syndromic CL/P were included in present study alongwith fifty individuals with no psychiatric history as controls. In all of the these individuals, search for Single nucleotide polymorphism was carried out by designing sequence specific primers. The sequence was amplified by using Real time PCR and products were investigated by visualizing high resolution melting curve upon HRM-PCR.
 Results: The logistic regression and Hardy-Weinberg equilibrium were applied to investigate the association of IRF6 SNP rs2013162 with disease. Results revealed no association of this polymorphism with non-syndromic CL/P.
 Conclusion: We found no association of IRF6 SNP rs2013162 in patients with non-syndromic CL/P. Further study is required with larger sample size to validate the findings of the present study in Pakistani population and along with this SNP other polymorphisms of the same gene should be analyzed to find out the association with the non-syndromic CL/P.
Highlights
Cleft lip and palate are considered most common birth defects that possess significant medical, psychological, social, and financial implications on the affected individuals and families[1]
We found no association of Interferon regulatory factor-6 (IRF6) SNP rs2013162 in patients with non-syndromic cleft lip (CL)/P
Further study is required with larger sample size to validate the findings of the present study in Pakistani population and along with this SNP other polymorphisms of the same gene should be analyzed to find out the association with the non-syndromic CL/P
Summary
Cleft lip and palate are considered most common birth defects that possess significant medical, psychological, social, and financial implications on the affected individuals and families[1]. Cleft lip and cleft palate are openings or splits in the upper lip, the roof of the mouth [4] or both. Cleft lip and cleft palate result when facial structures that are developing in an unborn baby don't close completely[5]. Cleft lips come in many shapes and sizes like unilateral, bilateral, complete and incomplete cleft palate. Clefts of the palate can include just the back part of the roof of the mouth (soft palate) called a soft palate cleft. Cleft lip and palate are congenital disorders which induce affected individuals medically, socially and psychologically. The objective of this study was to investigate the association of Single Nucleotide
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
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 call
