Lab 8 Flashcards
What is Sickle Cell Disease?
A genetic disorder caused by a structural change in the hemoglobin, leading to distorted red blood cells.
Can cause anemia, infections, and episodes of pain due to blockages of blood vessels
What is the hemoglobin and what is it responsible for?
A protein in red blood cells composed of two alpha-globin and two beta-globin subunits, responsible for oxygen transport.
What is an Amino Acid Substitution?
A change in the protein sequence where one amino acid is replaced by another, affecting protein function.
What are Proteins?
A long chain of amino acids that fold into specific three-dimensional structures, held together by several interactions between the amino acids and the surrounding molecules in which the protein is found
What is a Tetramer?
Made up of 4 smaller protein subunits/polypeptide chains that come together to make the final protein
ex. hemoglobin
What is a Restriction Digest?
A process using enzymes to cut DNA at specific sequences, aiding in genetic testing.
What is Genetic Testing?
The analysis of DNA to identify genetic disorders or traits.
What is Agarose Gel?
A medium used in gel electrophoresis for separating DNA fragments.
What is a DNA Ladder?
A set of known DNA fragment sizes used as a reference in gel electrophoresis.
What is a Standard Curve?
A graph used to estimate the size of DNA fragments based on their migration in gel electrophoresis.
What are Genetic Inheritance Patterns?
The ways in which genetic traits are passed from parents to offspring.
Hydrophobic
Water repelling
Hydrophilic
Attracted to water
How does sickle cell arise?
From the substitution of just one amino acid in the beta-globin subunits of the hemoglobin
A hydrophilic amino acid (glutamic acid) is replaced by a hydrophobic amino acid (valine) in the 6th position of the beta-globin polypeptide chain
Does the change of valine for glutamic acid change the structure of the molecule?
No
When oxygen is present, the hemoglobin takes a shape that causes the hydrophobic valine to be ______ from the water surroundings
Shielded
When oxygen is absent, the protein changes shape, ________ the valine to the cytoplasm
Exposing
In a single hemoglobin molecule, a single hydrophobic valine being in contact with water would or would not be significant?
Would not
The hydrophobicity of the valine means that when two valines from different hemoglobins come in contact, they _______?
Stick to each other
Individuals with sickle cell disease will have _______ on each hemoglobin protein
The proteins will start to form long chains inside the red blood cell which leads to _______.
Two hydrophobic valines
The distortion of the cell, which gives their “sickle” shape
Sickled cells may be recognized as _______ and ___________ which lowers the average lifespan of red blood cells and the overall red blood cell count, making the person ________.
Abnormal
Removed from the body
Anemic
Sickled cells tend to be less _____ than regular blood cells. This causes cells to become stuck in the _______.
Elastic
Capillaries
Individuals with sickle cell disease often have__________. This can lead to ______.
Reduced spleen function
Infections
Is sickle cell dominant or recessive?
Recessive
Sickle cell is most often found in people from ________?
Africa
In the sickle cell allele, the ____ in the sequence is changed to _______.
Adenine (A)
Thymine (T)
Why is a DNA ladder needed when running a gel electrophoresis?
To use as a template
What are the X and Y axises when creating a standard curve?
X= distance traveled by each band
Y= size of the band in the DNA ladder
Why do people use a logarithmic scale?
It is more precise than a curve
