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.

Verified step by step guidance

1. Go to the OMIM website (https://omim.org) and enter 'Cystic Fibrosis' or 'CF gene' in the search bar to find the relevant entry for the CFTR gene, which is responsible for cystic fibrosis.
2. Navigate to the 'Molecular Genetics' section of the CFTR gene entry to find detailed information about mutations associated with cystic fibrosis.
3. Identify the most common mutation listed in this section. Typically, this is the ΔF508 (also written as p.Phe508del) mutation, which involves the deletion of a specific amino acid in the CFTR protein.
4. Understand that the ΔF508 mutation results in the loss of phenylalanine at position 508 in the CFTR protein, which affects the protein's folding and function, leading to the symptoms of cystic fibrosis.
5. Summarize the mutation by describing its type (deletion), its effect on the protein, and why it is the most common mutation causing cystic fibrosis.

Key Concepts

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

The CFTR gene encodes a protein that functions as a chloride channel in epithelial cells, crucial for maintaining fluid balance in organs like the lungs and pancreas. Mutations in this gene disrupt ion transport, leading to cystic fibrosis symptoms such as thick mucus buildup and respiratory issues.

Common Mutations in the CFTR Gene

The most common mutation in the CFTR gene is the ΔF508 deletion, which removes a phenylalanine at position 508. This mutation causes misfolding of the CFTR protein, preventing it from reaching the cell surface and impairing chloride ion transport, which is central to cystic fibrosis pathology.

Using the OMIM Database for Genetic Research

OMIM is an online resource that catalogs human genes and genetic disorders, providing detailed molecular genetics information. It is used to identify gene mutations, understand their effects, and explore genotype-phenotype relationships, aiding in research and clinical diagnosis.