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标题：Investigating the Effect of TNF α (-863) and TNF α (-308) genes Polymorphism on the Progression of Disease in Patients with Cystic Fibrosis
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作者：Maryam Hassanzad ; Golnaz Hajiesmail ; Poopak Farnia 等
期刊名称：International Journal of Pediatrics
印刷版ISSN：2345-5047
电子版ISSN：2345-5055
出版年度：2019
卷号：7
期号：11
页码：10335-10341
DOI：10.22038/ijp.2019.41707.3513
出版社：Mashhad University of Medical Sciences
摘要：Background: Recent studies have shown that the course of cystic fibrosis in patients with this disease differs despite the same mutation in CFTR gene. We aimed to investigate the role of polymorphism in TNF α (-308) and TNF α (-863), and its effect on the phenotype of the patients with cystic fibrosis and progression of disease. Materials and Methods: In this case-control study, 50 children with cystic fibrosis and 50 healthy children were examined for TNF-α-308 GA and TNF α - 863CA polymorphism.Four ml of citrated blood was taken from the patients in order to perform the DNA purifying and PCR-RFLP. With custom designed primers, PCR was done. Then with restriction enzymes PCR-RFLP was performed on the product of previous PCR. Changes were analyzed taking the following into consideration: diagnosis age, starting point of the pulmonary disease. Hb O2 saturation level, FEV1, and FVC. Also, for each of them, a Schwachman index basis score was calculated and results are mentioned. Results: Patient’s average age was 21±5.1 years old (ranged 5-26 years), and 48.9% (n=24) of patients were females. The average age at diagnosis was also 39.78 ±13.51 months. Patients with genotype TNF-α-308GA were older in diagnostic time compared to TNF-α-308GG genotype. However, for other variables, such as O 2 sat, FEV1, FVC no difference was observed. Patients Heterozygote genotypes for “C” allele (CA) of TNF-863 have better Schwachman score than CC genotype. Conclusion The results of this research emphasize the importance of genetic factors affecting inflammatory processes. Identifying these variables is helpful in treating patients with cystic fibrosis disease..
关键词：Cystic fibrosis; FEV1; TNF;α promoter polymorphism