|Correlation Genotype-phenotype in Cystic Fibrosis According to Registry Center of Cystic Fibrosis|
|Mandana Rafeey1, Morteza Jabarpoor-Bonyadi2, Leila Vahedi 3|
|1Department of Gastroenterology, Tabriz Children’s Hospital, Liver and Gastrointestinal Diseases Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
2Department of Medical Genetic, Faculty of Natural Sciences, Center of Excellence for Biodiversity, University of Tabriz, Liver and Gastrointestinal Disease Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
3Research of Medical Genetics, Liver and Gastrointestinal Disease Research Centre, Tabriz University of Medical Sciences, Tabriz, Iran
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Keywords : Cystic fibrosis, Genotype, Phenotype, Mutation, Correlation, Comparison
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Objectives: To investigate the correlation of genotype-phenotype in patients with CF in the Azeri-Turkish population/Iran.
Methods and Materials: In a descriptive-analytic study according to Registry Center of Cystic Fibrosis, 206 patients with CF investigated from 2001 to 2017. Data included clinical, laboratory, and genetic results. Descriptive statistics, chi-square test, and independent t-test were applied using SPSS 21. The odds ratio with 95% confidence interval and P<0.05 were considered significant.
Results: Thirty one variants and 47 genotypes were observed. The ΔF508-genotypes (most common genotype), especially homozygote and compound heterozygous subjects, had a significant difference than other genotypes for chronic Sino pulmonary disease, gastrointestinal and nutritional abnormalities, and salt loss syndromes, with a higher sweat test measures mortality rate and complications.
Conclusions: Compared to exception of ΔF508, the rest of mutations are same and milder clinical course and most mutations belonged to this group. The challenge in Cystic Fibrosis consists of no detected mutations and high heterogeneity of CFTR mutations.
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