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)
16
Q
- fatty tissues in artery wall develops into an atheroma
- caused by LDL containing fats and cholesterol
- become large and block artery, cause high blood pressure, angina (pain), low oxygen levels
- can rupture and cause formation of a clot
- risk caused by high LDL, obesity, diabetes, smoking, stress, trans fats, some microbes
A
Atherosclerosis
17
Q
- formation of blood clots in coronary arteries that bring blood to heart
- caused by high LDL, obesity, diabetes, smoking, stress, trans fats, some microbes (like Atherosclerosis)
A
Coronary Thrombosis
18
Q
- retrovirus (RNA virus that uses reverse transcriptase to make DNA copies of genes in host cell)
- affects lymphocytes (Helper T lymphocytes), specific antibodies not produced
- caused by body fluids (sex, needles, blood transfusion)
A
HIV
19
Q
- larger alveoli (less surface area for gas exchange) with thicker walls (harder for gases to diffuse)
- less elastic lungs
- caused by smoking, genetics
- laboured breathing, need oxygen supplements
- chronic = irreversible
A
Emphysema
20
Q
- lack of neurotransmitter dopamine
- slow movements, rigidity, shaking
A
Parkinsons
20
Q
- pesticides block receptors of cholinergic synapses to acetylcholine
- insects become disorientated and cannot find way to food or home
A
Neonicotinoid Poisoning
21
Q
- circadian rhythm disrupted
- melatonin secretion from pineal gland disrupted
- melatonin works on hypothalamus and kidneys
A
Jet Lag
22
Q
- iodine deficiency or hyper/hypo thyroidism affects thyroxine production in thyroid (acts on all cells to control metabolism)
A
Metabolic Disorders
23
Q
- caused by testosterone, estrogen and progesterone
A
Puberty
24
Q
- fall in progesterone
A
Menstruation
25
Q
- large rise in LH
- small rise in FSH
A
Ovulation
26
Q
- rise in FSH
A
Meiosis in an Egg
27
Q
- fall in progesterone
- rise in oxytocin
A
Birth
28
Q
- estrogen
A
Repair of Uterine Lining AFTER Menstruation
29
Q
- drugs stop normal female cycle (stop LH and FSH production)
- high levels of LH and FSH injected to promote SUPEROVULATION
- HCG injection to loosen follicles
- follicles washed out of ovary, mixed with sperm, incubated until zygote forms, cleavage of embryo
- embryo implanted in uterus
- progesterone given as tablet in vagina
A
In Vitro Fertilization (IVF) if Infertile
30
Q
- called by single cell organism Plasmodium falciparum (lives in blood)
A
Malaria
31
Q
- caused by polygenic inheritance (more than one gene affects trait)
- at least three genes code for amount of melanin cells produce
A
Skin Colour and Hair Colour as examples
32
Q
- hemodialysis or kidney transplant
A
Kidney Failure and Treatment
33
Q
- overconsumption of water
- blood solutes diluted
- cells swell due to osmosis
- headache, nerve function reduced
A
Overhydration
34
Q
- low intake of water
- too much sweating, dark urine, low blood pressure, increase in body temp
A
Dehydration
35
Q
- caused by excess production of histamines by mast cells
- swelling of area, extra mucous, redness
- anti-histamine medicine as treatment
A
Allergies
36
Q
- pathogens that cross species barrier
- can affect other animals and humans
- e.g. bubonic plague, Lyme disease
A
Zoonosis
37
Q
- first disease eradicated by vaccination
- long lasting immunity, no long incubation time
A
Smallpox
38
Q
- methyl groups added to DNA, methylation, acetylation, or phosphorylation of histone proteins
- increase/decrease which genes are transcribed in next generation
A
Epigenetics May affect Phenotypes
