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Single-Gene (Cystic Fibrosis)

Single-Gene (Cystic Fibrosis)






Cystic Fibrosis is a hereditary single-gene genetic disorder caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene. It primarily affects the lungs, pancreas, and other organs that produce mucus and digestive fluids. In individuals with cystic fibrosis, the CFTR gene mutation disrupts the normal transport of chloride and sodium ions across cell membranes, leading to the production of thick, sticky mucus. This mucus can clog airways, cause chronic respiratory infections, impair digestion, and reduce nutrient absorption. Cystic fibrosis follows an autosomal recessive inheritance pattern, meaning a child must inherit two defective copies of the gene—one from each parent—to develop the disease. Advances in genetic screening, early diagnosis, and targeted therapies have significantly improved life expectancy and disease management.

Single-Gene Disorder, Cystic Fibrosis, CFTR Gene, Autosomal Recessive Inheritance, Genetic Mutation, Ion Transport Defect, Respiratory Disease, Mucus Accumulation, Genetic Screening, Molecular Genetics, Inherited Disorders, Precision Medicine, Pulmonary Disease, Genetic Diagnosis

#CysticFibrosis #SingleGeneDisorder #GeneticDisease #CFTR #AutosomalRecessive #GeneticMutation #MolecularGenetics #InheritedDisorders #PrecisionMedicine #GeneticResearch #RareDiseases #Genomics #MedicalGenetics 🧬

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