scholarly journals Single nucleotide polymorphism of BMP4 Gene: A risk factor of non-syndromic cleft lip with or without cleft palate

2015 ◽  
Vol 48 (02) ◽  
pp. 164-165
Author(s):  
Michael H. Carstens



2010 ◽  
Vol 152A (4) ◽  
pp. 856-862 ◽  
Author(s):  
Ling Li ◽  
Tian Meng ◽  
Zhonglin Jia ◽  
Guiquan Zhu ◽  
Bing Shi


2019 ◽  
Vol 3 (1) ◽  
pp. 28-40
Author(s):  
Husnain Shehzad ◽  
Osheen Shehzad

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.





Author(s):  
Annabelle Mouammine ◽  
Annie Gravel ◽  
Isabelle Dubuc ◽  
Yassamin Feroz Zada ◽  
Sylvie Provost ◽  
...  

Abstract Approximately 1% of people worldwide carry a copy of the human herpesvirus 6A or 6B (HHV-6A/B) in every cell of their body. This condition is referred to as inherited chromosomally integrated HHV-6A/B (iciHHV-6A/B). The mechanisms leading to iciHHV-6A/B chromosomal integration are yet to be identified. A recent report suggested that the rs73185306 C/T single-nucleotide polymorphism (SNP) represents a favorable predisposing factor leading to HHV-6A/B integration. After genotype analysis of an independent cohort (N = 11 967), we report no association between the rs73185306 C/T SNP and HHV-6A/B chromosomal integration (odds ratio, 0.90 [95% confidence interval, .54–1.51]; P = .69).



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