The first patent was issued on a human gene sequence is located on which chromosome and what kind of health risk is caused due to its mutation ?

Key Points

• Cystic fibrosis is a genetic disorder caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene located on chromosome 7.
• The CFTR gene mutation leads to thick mucus production that blocks airways and other ducts in the body.
• Cystic fibrosis primarily affects the lungs, pancreas, and digestive system.
• Common symptoms include chronic respiratory infections, difficulty breathing, digestive issues, and infertility in males.

Important Points

• The CFTR gene mutation involves a deletion of the amino acid phenylalanine at position 508 (ΔF508), which is the most common mutation causing cystic fibrosis.
• Cystic fibrosis is inherited in an autosomal recessive pattern; both parents must pass down a defective gene for the child to develop the disorder.
• Early diagnosis and treatment can help improve the quality of life and life expectancy for individuals with cystic fibrosis.