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Hemophilia A
- mutations in the F8 gene, which is located on the X chromosome.
The F8 gene provides instructions for producing factor VIII, a protein essential
for blood clotting.
- X-linked recessive disorder
- males are typically affected since they inherit only one X chromosome.
Females require mutations on both X chromosomes to have the condition, which is
extremely rare.
Carrier females typically do not show symptoms but may have mild clotting
issues.
,Hemophilia B
- mutations in the F9 gene, located on the X chromosome.
The F9 gene provides instructions for producing factor IX, a protein crucial for
blood clotting.
- X-linked recessive disorder
- Similar to Hemophilia A, males are affected because they inherit only one X
chromosome.
Females are usually carriers, but mild symptoms can occur in some carriers.
Review Down syndrome. What is it and what are factors associated with the risk
of having a child with this disease?
- caused by the presence of an extra copy of chromosome 21.
The presence of an extra chromosome 21 causes overexpression of certain genes,
which disrupts the normal development and function of various body systems.
- The risk of having a child with Down syndrome increases significantly with
maternal age, paternal age, carrier of translocation.
What is a somatic cell?
NOT reproductive cells
23 pairs of chromosomes = 46 chromosomes
,What is a locus?
Each gene occupies a position along a chromosome, known as a locus
What is Cri du chat syndrome?
- The condition arises from a deletion of genetic material on the 5p chromosome
- causes intellectual disability, developmental delays, growth issues, and
speech and motor impairments. It also affects other physical features such as the
face and heart.
- chromosomal disorder, specifically caused by a deletion
- High-pitched cry, Small head, Wide-set eyes
What is Turner syndrome?
- affects females, where one of the two X chromosomes is missing or partially
missing.
Unlike most females who have two X chromosomes (46, XX), females with Turner
syndrome have only one fully functional X chromosome (45, X)
- one of the X chromosomes is missing or partially missing
- Short, Webbed Neck, Wide chest and space in-between nipples
, How does meiosis work? How is it different from mitosis?
- Meiosis is how cells divide to make sperm and egg cells (reproductive cells).
- Mitosis is how one cell divides into two identical cells.It happens so your body can
grow, heal wounds, and replace old cells.
Where is genetic material found in a cell?
DNA
What are the 3 lines of defense? Provide an example of each.
Innate/Natural barriers (1):
Physical: skin, mucus membranes, cilia
Chemical: stomach acid, saliva, tears, sweat
Inflammatory Response (2): Histamines, cytokines, fever phagocytes, clotting factors
Adaptive Immunity (3): T lymphocytes, B lymphocytes, macrophages, dendritic cells,
antibodies, cytokines
IgE
Antibodies produced in allergies.
Located in connective tissue and close to vessels, they can be found near the body's
surfaces (skin, GI, and respiratory tract linings).