Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.

Go to the 'Molecular Genetics' section and describe the most common mutation of the CF gene.

Key Concepts

Cystic Fibrosis (CF) Gene

The CF gene, located on chromosome 7, encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which is essential for regulating the movement of chloride ions across epithelial cell membranes. Mutations in this gene lead to the development of cystic fibrosis, a serious genetic disorder affecting the lungs and digestive system.

Common CFTR Mutation

The most common mutation associated with cystic fibrosis is the deletion of three nucleotides in the CFTR gene, resulting in the loss of phenylalanine at position 508 (F508del). This mutation disrupts the protein's folding and trafficking, leading to its degradation and a subsequent deficiency in chloride ion transport, which causes the symptoms of cystic fibrosis.

Molecular Genetics

Molecular genetics is the branch of genetics that studies the structure and function of genes at a molecular level. It involves understanding how genes are expressed, regulated, and mutated, and how these processes contribute to genetic disorders. This field is crucial for identifying specific mutations, such as those in the CF gene, and developing targeted therapies.