3 Flashcards
What is a phenotype?
A phenotype is the set of observable characteristics of an individual, which can be molecular, cellular, or macroscopic.
What is an example of a phenotype?
An example is sickle cell disease (drépanocytose).
What occurs at the molecular scale in sickle cell disease?
A mutation in the HBA gene (A → T) replaces glutamic acid with valine.
What is formed as a result of the molecular mutation in sickle cell disease?
The formation of hydrophobic hemoglobin HBS, which creates fibers.
What are the characteristics of red blood cells in sickle cell disease?
Red blood cells become deformed, rigid, and fragile.
What are some macroscopic symptoms of sickle cell disease?
Symptoms include dizziness, fatigue, pain, and shortness of breath.
What is a phenotype?
A phenotype is the set of observable characteristics of an individual, which can be molecular, cellular, or macroscopic.
What is an example of a phenotype?
An example is sickle cell disease (drépanocytose).
What occurs at the molecular scale in sickle cell disease?
A mutation in the HBA gene (A → T) replaces glutamic acid with valine.
What is formed as a result of the molecular mutation in sickle cell disease?
The formation of hydrophobic hemoglobin HBS, which creates fibers.
What are the characteristics of red blood cells in sickle cell disease?
Red blood cells become deformed, rigid, and fragile.
What are some macroscopic symptoms of sickle cell disease?
Symptoms include dizziness, fatigue, pain, and shortness of breath.
