What Are Some Examples of Genotype-Phenotype Correlations in Diseases?
Several diseases exhibit well-documented genotype-phenotype correlations:
Cystic fibrosis: Mutations in the CFTR gene lead to defective chloride ion transport, resulting in thick mucus production and characteristic histological changes in the lungs and pancreas. Hereditary hemochromatosis: Mutations in the HFE gene cause excessive iron accumulation in tissues, identifiable through histological staining techniques like Prussian blue. Huntington's disease: Expanded CAG repeats in the HTT gene lead to neuronal degeneration, with specific histological features like neuronal inclusions and brain atrophy.
