Question

How can you prove that your chosen candidate is the CFTR gene? Select the three correct answers.

Problem 16.15 Mutations in the CFTR gene result in cystic fibrosis in humans, a condition in which abnormal secretions are present in the lungs, pancreas, and sweat glands. In the effort to positionally clone the CFTR gene, the gene was mapped to a region of 500 kb on chromosome 7 containing three candidate genes. Part A Using your knowledge of the disease symptoms, how would you distinguish between the candidate genes to decide which is most likely to encode the CFTR gene? Part B How can you prove that your chosen candidate is the CFTR gene?

Answer 1

CFTR mutation are autosomal recessive, so correct options can be-

Show that mutant variations of the gene are not expressed in any kind of cell. Show that people with cystic fibrosis are homozygous for mutant variants of the gene. Bearch for polymorphism of the gene between normal people and people with cystic fibrosis Show that people with cystic fibrosis have at least 1 copy of mutant variants of the gene. Show that people without symptoms of cystic fibrosis do not have mutations in the gene. Show that parents of people with cystic fibrosis are both heterozygous for mutant variants of the gene.