Diseases and Human Conditions Flashcards
Mandatory to know for IB
1
Q
- photoreceptors on retinal cells do not work/degenerate - can be cured with stem cells
A
Stargardt’s disease
2
Q
- stem cells can treat this type of blood cancer
A
Leukemia
3
Q
- base substitution GAG to GTG, amino acid valine instead of glutamic acid
- recessive, carriers protected against malaria
- red blood cells change shape and clog arteries (hemoglobin clumps at low O2 levels)
A
Sickle Cell Anemia
4
Q
- most common genetic disease in Europe
- recessive, autosomal allele on chromosome 7
- chloride channels don’t work properly, thick mucus builds up
A
Cystic Fibrosis
5
Q
- dominant autosomal allele on chromosome 4
- causes degenerative changes in the brain
A
Huntington’s Disease
6
Q
- sex linked, affected gene is on the X chromosome
- cannot clot blood as protein factor VII is not made
A
Hemophilia
7
Q
- sex linked, gene is on the X chromosome
- cannot see difference between red and green
- one photoreceptor protein of the cone cells in the retina is defective
A
Red-Green Colourblindness
8
Q
- coronary arteries partially blocked by fatty deposits, can break off and form clots
- trans fats, saturated fats, and low fiber intake can increase risk
A
Coronary Heart Disease (CHD)
9
Q
- beta islets do not produce insulin, blood sugar remains high after eating
- usually appears in children
- treated with insulin (can be from genetically modified bacteria as DNA code is universal)
A
Diabetes Type 1
10
Q
- receptors do not respond to insulin
- caused by being overweight, sugary diet, genetics
- appears typically in adults
- treated with diet, weight loss, pills (sometimes insulin)
A
Diabetes Type 2
11
Q
- leptin is produced by adipose (fat) tissue, acts on hypothalamus to reduce appetite
A
OVERWEIGHT: due to Lack of Leptin Receptors or No Reaction to Leptin
12
Q
- mutations in oncogenes (genes that have potential to cause cancer) caused by mutagens
- problems with mitosis
- high mitotic index
A
Cancer:
- thyroid cancer and radiation from Hiroshima and Chernobyl
- lung cancer and smoking, air pollution, low survival rate
13
Q
- immobilized lactase to make lactose free products (enzyme immobilized so not wasted)
A
Lactose Intollerance
14
Q
- lactate builds up after anaerobic cell respiration in muscles
- lactate broken down by oxygen after exercise
A
Oxygen Debt
15
Q
- three of chromosome 21
- caused by nondisjunction during meiosis (homologous chromosomes in meiosis 1 or sister chromatids in meiosis 2)
- seen in karyogram after amniocentesis or chorionic villus sampling
- older parents = higher risk
A
Trisomy 21 (Down Syndrome)