Question

Part III: Short answer and problems – show all of your work 12. In this course we have discussed the concepts of “recessive” traits and “dominant” traits. One example of a recessive trait results from mutations in the CFTR gene. a. What disease is caused if both copies of the CFTR gene are mutated so that the protein is not produced? (2 pts) b. What is the role in the cell of the protein encoded by the CFTR gene (you can draw a picture, but make sure to also explain using words)? Why will no symptoms appear if one copy is mutated? Finally, discuss why the total absence of the CFTR gene/ protein will cause the symptoms of the disease. (5 pts)

Answer 1

CFTR is a gene product of which ( cystic fibrosis - transmembrane regulator protein) control the movement of saliva, mucous throgh the membrane. Mutation in CFTR will causes the dysfunctioning of the cell mbrane and more concentrated mucus may released which causes the tissue damage. Mutation in CFTR develops only Cystic fibrosis if both the copies of gene are mutated. Hence the Cystic fibrosis is recessive trait and only expressed when mutation is in both copies.