The Genetic Spectrum of Cystic Fibrosis in Different Populations
DOI:
https://doi.org/10.37547/ajbspi/Volume05Issue03-03Keywords:
Cystic fibrosis, children, lungsAbstract
Cystic fibrosis (CF) is a hereditary disease caused by mutations in the CFTR gene, which regulates chloride ion transport in epithelial cells. To date, more than 1,500 CFTR mutations have been identified, with their prevalence varying among different ethnic groups. This article reviews data on the frequency and spectrum of CFTR mutations in various populations, including Iran, Turkey, Russia, the USA, Australia, and Europe. Special attention is given to neonatal CF screening programs, their effectiveness, challenges related to false-negative results, and the need to adapt mutation panels based on ethnic characteristics. Studies confirm that expanding genetic panels, lowering IRT threshold values, and implementing a differentiated screening approach can significantly improve diagnostic accuracy and patient outcomes.
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