Q15: How does psychological stress affect the immune system?
can disrupt immune system regulation by altering the interactions of the hormonal, nervous, and immune systems.
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Q: What is DNA and what is its role?
DNA is a code found in the nucleus of our cells that contains instructions to make us.
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Role of DNA
It determines our genetic makeup and plays a crucial role in our physical traits and susceptibility to diseases.
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Q: What is a genome?
complete set of genetic information specific to a particular organism. It is the same in every cell of an individual.
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Q: What is the structure and function of DNA?
genes code for proteins, double-helix structure carries instructions for various biological processes.
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Q: How many chromosomes do somatic cells have?
23 pairs
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How many autosomes do humans have?
22 pairs
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How many sex chromosomes do humans have?
1 pair (XX, XY)
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Q: What are the major classes of genetic diseases?
chromosomal disorders, monogenic disorders (caused by single gene defects), and polygenic disorders (caused by defects in multiple genes).
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Q: What are chromosomal disorders?
large-scale alterations in chromosomes that can lead to developmental disorders or spontaneous abortions.
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chromosomal disorder what happens
gain or loss of a complete chromosome and deletion or insertion of part of a chromosome.
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Q: how does aneuploidy happen ?
fertilization of gametes with an abnormal number of chromosomes due to nondisjunction.
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what does aneuploidy lead to
abnormal number of a particular chromosome in offspring.
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Q: What is Down syndrome?
aneuploid condition
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what is down syndrome caused by
the presence of an extra copy of chromosome 21.
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how many people does down syndrome effect
1 in 800-1000 children born each year
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down syndrome is characterised by
various physical and intellectual disabilities.
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Q: What are monogenic disorders caused by ?
mutations in a single gene.
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monogenic disorders classified as
autosomal dominant or autosomal recessive based on the inheritance pattern.
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In autosomal recessive disorders, both parents are usually
carriers of one mutated allele.
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autosomal recessive disorders require ? to be affected
two copies of the mutated gene
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autosomal dominant disorders occur when
one copy of a disease-causing gene is sufficient for a person to be affected.
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Q: Can you provide examples of monogenic disorders?
cystic fibrosis, Huntington's disease, achondroplasia (a rare form of dwarfism), and albinism.
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Q: What kind of disorder is cystic fibrosis?
genetic disorder primarily
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what does cystic fibrosis effect
the lungs and digestive system.
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cystic fibrosis caused by?
a defective or absent chloride channel in plasma membranes, leading to the buildup of chloride ions outside the cell.
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cystic fibrosis symptoms
thick mucus, frequent chest infections, and malnutrition.
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sickle-cell disease affects ?
red blood cells.
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sickle-cell disease is characterized by
abnormal hemoglobin,
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sickle-cell disease leads to
physical weakness, pain, organ damage, and increased susceptibility to infections.
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sickle-cell disease: Heterozygotes (carriers) have a lower susceptibility to
malaria,
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sickle-cell disease: Heterozygotes (carriers) have a lower susceptibility to malaria, providing a ? in regions where malaria is prevalent.
heterozygotic advantage
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Q: What are X-linked disorders?
genetic disorders caused by mutations in genes located on the X chromosome.
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who is more likely to be affected by X-linked disorders,
Males
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how much of a chance do female carriers of X-linked disorders have of passing the mutated gene to their offspring
50%
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Q: Can you provide an example of an X-linked disorder?
Duchenne muscular dystrophy (DMD)
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what is DMD characterised by
rapidly worsening muscle weakness.
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who does DMD primarily affect
males
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DMD typically appears in
early childhood.
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what determines if someone will develop a disease In single gene disorders
the presence or absence of genetic mutations
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what do mutations disrupt
the normal functioning of genes,
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what do mutations lead to
abnormal protein production or other biological consequences.
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Q: What are polygenic disorders caused by ?
a combination of genetic factors (involving multiple genes) and environmental factors.
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polygenic disorders Examples include
heart disease, diabetes, cancer, epilepsy, hypertension, and mental health disorders.
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Q: How do polygenic disorders differ from single gene disorders?
complex inheritance pattern, involve the interaction of multiple genes and environmental factors. lower heritability compared to single gene disorders, the genetic contribution to these disorders is not yet fully understood.
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Q1: What is a drug
A drug is any substance that causes an effect in the body,
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toxin
any substance that causes an unwanted effect in the body.
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Pharmacokinetics
the study of the movement of drugs within the body, including absorption, distribution, and elimination.
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pharmacokinetics helps understand
how the body handles medications
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pharmacokinetics relevant to clinical practice for
determining drug dosing and optimizing treatment outcomes.
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Q3: What are the four components of pharmacokinetics?
absorption, metabolism, distribution, and excretion.
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Q4: How do substances travel across plasma membranes?
diffusion or passive transport (from higher to lower concentration) and active transport (against concentration or electrochemical gradient).
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active transport
against concentration or electrochemical gradient
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Diffusion or passive transport
from higher to lower concentration
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Co-transport involves the movement of
multiple chemicals across the membrane.
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Q5: What factors affect drug absorption?
the size of the drug molecule, its lipid solubility, its degree of ionisation (pH of surrounding environment), and interactions with food or other medications.
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drug metabolism can significantly impact
drug action,
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drug metabolism factors
age, lifestyle, and diseases.
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Drug metabolism, also known as biotransformation, involves
biochemical reactions that change drugs to facilitate their excretion from the body.
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drug Metabolism primarily occurs in
the liver
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Q7: How are drugs distributed throughout the body? factors in determining distribution.
The amount of blood flow to body tissues, Drug-protein complexes, barriers like the placenta or brain barriers
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Many drug molecules form reversible complexes with
plasma proteins, preventing them from reaching target cells and body tissues. Only the free, unbound drug can exert an effect.
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Many drug molecules form reversible complexes with plasma proteins, preventing them from
reaching target cells and body tissues.
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Only the ? drug can exert an effect.
free, unbound
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drugs can also be excreted
into bile (biliary excretion), through the lungs (respiratory excretion), or by glandular secretions (e.g., sweat, milk).
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Drugs are primarily excreted by the
kidneys (renal excretion),
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Enterohepatic recirculation occurs when
drugs excreted in bile are reabsorbed and recirculated back to the liver.