scholarly journals The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function

2002 ◽  
Vol 30 (16) ◽  
pp. 3624-3631 ◽  
Author(s):  
S. G. Khan
Genetika ◽  
2016 ◽  
Vol 48 (3) ◽  
pp. 819-826 ◽  
Author(s):  
Sajjad Ghorghanlu ◽  
Mohammad Asgharzadeh ◽  
Hossein Samadi-Kafil ◽  
Fatemeh Khaki-Khatibi ◽  
Jalil Rashedi ◽  
...  

Single nucleotide polymorphisms (SNPs) in cytokine genes may alter the level and function of secreted cytokine; therefore, SNPs can influence the immune response. The aim of the present study was to determine the association of TNF-? -308G/A single nucleotide polymorphism in tuberculosis patients in the Azeri population of Iran. The TNF-308G/A single nucleotide polymorphism in the promoter region was genotyped by using the allele-specific PCR method in 200 healthy controls and 124 tuberculosis patients. The distribution of allele frequencies for TNF-? -308G/A polymorphism between control and tuberculosis patient groups was not significant (P-value = 0.058, OR = 1.5). Furthermore, no statistically significant association was found between TNF-? -308G/A genotype and resistance/susceptibility to TB (P-value = 0.102). Our results suggest that TNF-? -308G/A polymorphism has no measurable effect on the development of tuberculosis in Azeri population of Iran.


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