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

Look up cystic fibrosis (CF), OMIM 602421, and give the gene name and abbreviation and the chromosome location of the gene.

Key Concepts

Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene, leading to the production of thick, sticky mucus that can clog the lungs and obstruct the pancreas. It is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene to express the disease. Understanding CF is crucial for exploring its genetic basis and implications for treatment.

CFTR Gene

The CFTR gene, which stands for Cystic Fibrosis Transmembrane Conductance Regulator, is located on chromosome 7 and encodes a protein that functions as a channel for chloride ions across epithelial cell membranes. Mutations in this gene disrupt the normal transport of salt and water, leading to the symptoms associated with cystic fibrosis. Identifying the gene and its function is essential for understanding the molecular mechanisms of CF.

Chromosome Location

The chromosome location of a gene refers to its specific position on a chromosome, which is crucial for genetic mapping and understanding inheritance patterns. For cystic fibrosis, the CFTR gene is located on the long arm of chromosome 7 (7q31.2). Knowing the chromosome location helps in genetic testing, diagnosis, and research into gene therapy options for genetic disorders.