Cystic Fibrosis and Genetic Mutations

This set of flashcards covers key concepts related to cystic fibrosis, genetic mutations, and the biological processes of gene expression and inheritance.

What is cystic fibrosis?

An inherited disease caused by mutations in the CFTR gene, leading to thick mucus buildup in the lungs.

What does the CFTR gene do?

It allows chloride ions to enter the lungs which helps thin mucus.

What are the two types of genetic mutations?

Inherited mutations passed down from parents or spontaneous mutations caused by environmental factors.

Describe the structure of the respiratory tract.

It includes progressively smaller branches: trachea, bronchi, bronchioles, and alveoli.

What function do goblet cells serve in the respiratory system?

They produce mucus to keep the airways lubricated and collect particles.

What happens when CFTR protein is mutated?

It cannot move chloride ions out of the cell, causing mucus to thicken and cilia to fail.

What are the stages of gene expression?

Transcription (DNA to RNA) and translation (RNA to protein).

What is a codon?

A sequence of three nucleotides in mRNA that corresponds to a specific amino acid.

What is the result of a missense mutation?

It results in a different amino acid being incorporated into a protein, potentially altering its function.

What does it mean for a disorder to be autosomal recessive?

Two copies of the recessive allele are needed to express the trait or disease.

How does crossing over contribute to genetic variability?

It allows for the swapping of genes between homologous chromosomes during meiosis.

What are the two processes involved in the production of gametes during meiosis?

Meiosis I separates homologous chromosomes, while Meiosis II separates sister chromatids.

What is recombinant DNA technology used for?

To combine DNA from two sources, often to deliver therapeutic genes into host cells.

What role do biotechnology and protein correctors play in treating cystic fibrosis?

They help improve the function of nonfunctional CFTR proteins by correcting their structure.

What are the implications of frameshift mutations?

They can lead to misfolded proteins or loss of protein function.

Explain the phenotype and genotype. How are they related?

Phenotype refers to observable traits, while genotype refers to the genetic makeup. The genotype determines the phenotype.