19 Questions
What is the molecular reason for a genetic disease?
Inherited or acquired mutations
Which type of mutation causes a genetic disease by altering the function of a protein?
Mutations at the structural genes
How many effects of disease-causing mutations on protein function are mentioned in the text?
4
What does the biochemical genetic study focus on?
Phenotype at the level of proteins, biochemistry, and metabolism
What is the defect in class II mutation?
Defective protein processing due to misfolding of protein
How is Phenylketonuria (PKU) caused?
Loss of function mutations on the gene encoding phenylalanine hydroxylase (PAH)
What is the main method for detecting Na and Cl amount DNA mutation analysis?
Detection of Na and Cl amount DNA mutation analysis
Which mutation leads to defective regulation of protein S1255P?
Mutations of the NBDs
What is the cause of α thalassemias?
Deletions of α globin genes
What is the result of mutations in the CFTR gene?
Production of nonfunctional or defective protein
Which genetic disorder is characterized by the production of abnormal hemoglobin?
Thalassemias
What causes sickle cell disease?
A change in amino acid sequence
Which gene mutations can cause genetic disorders associated with thalassemias?
$eta$ globin gene
What is the result of mutations in the regulatory elements of the $ au$ globulin gene?
Continued expression of fetal hemoglobin
What are the characteristic symptoms of cystic fibrosis?
All of the above
What is the composition of the CFTR protein?
Membrane spanning domains, nucleotide binding domains, and a regulatory domain.
What is a possible consequence of mutations in protein coding genes?
Genetic disorders such as thalassemias or cystic fibrosis.
What type of anemia is associated with thalassemias?
Hypochromic, microcytic anemia.
Where is the regulated Cl^- channel encoded by the CFTR gene located?
Apical membrane of epithelial cells.
Study Notes
- Genetic disorders can result from the expression of a gene at the wrong time or place.
- Examples of these disorders include α thalassemias, which are caused by deletions of α globin genes, and sickle cell disease, which results from a change in amino acid sequence that does not affect the transport of oxygen but causes hemoglobin to aggregate and form fibers when deoxygenated.
- Another example is the persistence of fetal hemoglobin, which is caused by mutations in the regulatory elements of the γ globulin gene, leading to the continued expression of this gene in adult life.
- Mutations in protein coding genes, such as those associated with thalassemias or cystic fibrosis, can also cause genetic disorders.
- Thalassemias are a group of genetic disorders characterized by the production of abnormal hemoglobin, leading to hypochromic, microcytic anemia and damage to the red cell membrane.
- Mutations in the β globin gene can result in decreased β globin production, causing various types of β thalassemia.
- Cystic fibrosis is a genetic disorder caused by mutations in the CFTR gene, which encodes a regulated Cl^- channel located in the apical membrane of epithelial cells.
- The CFTR protein is composed of five domains: membrane spanning domains, nucleotide binding domains, and a regulatory domain.
- The mutations in the CFTR gene lead to the production of nonfunctional or defective protein, resulting in the characteristic symptoms of cystic fibrosis, including lung and pancreatic dysfunction, elevated levels of Cl^- in sweat, and chronic obstructive lung disease.
Test your knowledge of the molecular and biochemical principles underlying genetic disorders. Explore the molecular reasons for genetic diseases, including mutations in essential genes and their impact on gene products such as mRNA and proteins.
Make Your Own Quizzes and Flashcards
Convert your notes into interactive study material.
Get started for free
