Explain why individuals with cystic fibrosis have different levels of severity of the disease

What will be an ideal response?


Both the types and the numbers of mutations in the single gene responsible for cystic fibrosis, called the CFTR gene, can produce different disease phenotype. More than 1,900 mutations of several types have been identified in this gene. People with cystic fibrosis have a wide range of clinical symptoms. The relationship between the type and location of the CFTR mutation and the clinical phenotype has been investigated for a number of mutant alleles. Some mutations totally disrupt protein synthesis and severe clinical symptoms result. In other mutations, proteins may be synthesized but only partially functional. These types of mutations are associated with milder forms of the disease. It is possible for someone with cystic fibrosis to carry two different mutant alleles and be a compound heterozygote. This genetic variability further contributes to the range of phenotypes seen in cystic fibrosis.

Biology & Microbiology

You might also like to view...

Which animal cell organelle contains enzymes that transfer hydrogen from various substrates to oxygen?

A) lysosome B) vacuole C) mitochondrion D) Golgi apparatus E) peroxisome

Biology & Microbiology

Which of the following is a difference between Class I and Class II major histocompatibility complex (MHC) proteins?

A) Class I MHC proteins can be found on most cell types, while Class I and II MHC proteins are found on the antigen presenting cells of the immune system B) Class I MHC proteins are added to antigens in the cytoplasm, while Class II proteins are added to antigens in the Golgi apparatus. C) Class I MHC proteins signal the immune system to activate the cell displaying the message, while Class II proteins signal the immune system to destroy a particular cell. D) Class I and Class II MHC proteins have the same basic role, but individuals with particularly strong immune systems will have both types, while most individuals have just one or the other.

Biology & Microbiology

Interferons, complement, lysozyme, and lactoferrin are all examples of

A. specific antimicrobial factors. B. immune enzymes. C. nonspecific antimicrobial factors. D. cytokines.

Biology & Microbiology

If alleles for the same gene are different in the same person, that individual is heterozygous for the trait

Indicate whether the statement is true or false

Biology & Microbiology