PATHOLOGY

Detailed explanation-1: -Cystic fibrosis is an example of a recessive disease. That means a person must have a mutation in both copies of the CFTR gene to have CF. If someone has a mutation in only one copy of the CFTR gene and the other copy is normal, he or she does not have CF and is a CF carrier.

Detailed explanation-2: -Recessive diseases are single gene disorders that only occur in the homozygous state – when an individual carries two mutant versions (alleles) of the relevant gene.

Detailed explanation-3: -Cystic fibrosis (CF) is a recessive genetic disease that is caused by mutations on both CFTR alleles, resulting in abnormal sweat electrolytes, sino-pulmonary disease, male infertility, and pancreatic exocrine insufficiency in 95% of patients [1, 2].

Detailed explanation-4: -This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Detailed explanation-5: -What causes cystic fibrosis? Cystic fibrosis is an inherited disease caused by mutation in a genes called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene provides instructions for the CFTR protein.