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Nucleus
Has chromosomes with DNA that provides the instructions to make proteins
Management – sends out instructions (DNA –> RNA)
benign
not responsible for identified effects
Genetics
this testing refers to speciic testing of areas of known function
Genomic
this testing refers to evaluation of large segments across the entirety of genetic material which may or may not have known function
pathogenic
responsible for identified effects
variant of uncertain significance
unclear if responsible for identified effects
catabolic pathways
degradation of complex molecules into simpler ones
catabolic pathways
Glycolysis
pyruvate dehydrogenase complex
kreb’s cycle/ citric acid cycle
electron transport chain
Glycolysis
converts glucose into pyruvate through a sequence of ten enzyme-catalyzed reactions
pyruvate dehydrogenase complex
linking the glycolytic pathway to the oxidative pathway of the tricarboxylic acid cycle
electron transport chain
a series of four protein complexes that couple redox reactions, creating an electrochemical gradient that leads to the creation of ATP in a complete system named oxidative phosphorylation
kreb’s cycle/ citric acid cycle
completes the oxidation of glucose by taking the pyruvates from glycolysis
central dogma of molecular biology
the flow of genetic information in cells from DNA to messenger RNA (mRNA) to protein
produces enzymes for catalysts
capillaries
transports the glucose to the blood
lacteal
acts as the support so that the microvilli can stand
cortisol
a hormone that eneables the muscles contracts which gives a lot of pain
pyrimidines
thymine and cytosine
purines
adenine and guanine
Ribosomes
The protein factories of the cell
Workbench – makes products (proteins)
Cytoplasm
Includes everything found inside of the cell membrane except for the nucleus
Cell membrane
Separates the inside of the cell from the outside environment;
Regulates what gets into and out of the cell
Cytoskeleton
Gives the cell its shape and provides pathways for transport
Lysosome
Contains chemicals that break down food particles and worn out parts
Cleanup crew – disposes of old and worn out products and equipment; prepares them for recycling
Mitochondria
Produce most of the cell’s ATP
Powerhouse – provides energy in a form the factory/cell can use (ATP)
Golgi apparatus
Receives proteins form the ER, packages them, and sends them to other parts of the cell
Transport – moves products (proteins) around in factory/cell
Endoplasmic reticulum (ER)
Smooth ER: makes lipids
Rough ER: processes proteins for secretion
Rough ER
Processing – prepares products (proteins) to leave factory/cell
Homeostasis
from the two Greek words ”homo” - same and “statis” – stable.
Homeostasis
a self-regulating process by which an organism can maintain internal stability while adjusting to changing external conditions.
Homeostasis
o Thermoregulation (temperature)
o Osmoregulation (water)
o Gas Exchange
o Blood Glucose
o Guard Cells
Homeostasis
It also responsible for the regulation and internal maintenance of the body. The body works best when internal conditions are within an acceptable range.
Homeostasis
it typically involves negative feedback loops that counteract changes of various properties from their target values, known as set points.
positive feedback loops
amplify their initiating stimuli, in other words, they move the system away from its starting state
Child birth
having a child while in labor makes a female body contracts in such a way that their adrenal glands (an organ that is on top of the kidneys) secretes a lot of cortisol a hormone that enables the muscles contracts which gives a lot of pain.
Feedback loops
a biological occurrence where the output of a system amplifies the system (positive feedback) or inhibits the system (negative feedback).
Thermoregulation
Hypothalamus scans temperature of blood as it passes through
Too high 🡪 blood vessels:
dilate, sweating occurs
Too low 🡪 blood vessels:
constrict, shivering
osmoregulation
Regulation of the balance of water and solutes (salt, ions) in the body
Aquatic Organisms
(freshwater) protists
freshwater fish
Freshwater fish
environment is hypotonic to the fish; fish take in lots of water
Freshwater fish
Solution 🡪 fish excrete LOTS of very dilute urine to conserve solutes.
Saltwater fish
environment is hypertonic to the fish; fish loses water to osmosis.
Saltwater fish
Solution 🡪 fish have specialized gills to excrete excess ions
Osmoregulation in humans
a. Terrestrial Animals
i. Water is constantly being lost through evaporation, perspiration, urination
1. Water lost through these avenues needs to be replaced by drinking and eating
ii. Concentration of urine allows solutes to be excreted while conserving water (kidneys)
Terrestrial Animals
Water is constantly being lost through evaporation, perspiration, urination
Terrestrial Animals
Water lost through these avenues needs to be replaced by drinking and eating
Terrestrial Animals
Concentration of urine allows solutes to be excreted while conserving water (kidneys)
Guard Cells (Plants)
a. Leaves take in CO2, release O2 and H2O through stomata
b. Guard cells surround the stomata
i. Water abundant 🡪 water pressure HIGH, stomata OPEN, release water, CO2 enters
ii. Water scarce 🡪 water pressure LOW, stomata CLOSED, loss of water limited
c. Generally 🡪
i. Stomata open during the day (photosynthesis)
ii. Stomata closed during the night (decreased photosynthesis, prevent water loss)
iii. Exceptions 🡪 HOT DRY conditions may result in closed stomata during the day
stomata
Leaves take in CO2, release O2 and H2O through??
Water abundant 🡪 water pressure HIGH
stomata OPEN, release water, CO2 enters
Water scarce 🡪 water pressure LOW
stomata CLOSED, loss of water limit
photosynthesis
Stomata open during the day
(decreased photosynthesis, prevent water loss)
Stomata closed during the night
Exceptions 🡪 HOT DRY conditions
may result in closed stomata during the day
Respiration (Gas exchange)
lungs
Respiration (Gas exchange)
a. Oxygen-rich air (poor in CO2) is taken in during inhalation; moves to alveoli
b. Oxygen-poor blood (rich in CO2) vessels surround the alveoli
c. Passive transport moves the oxygen from alveoli into the blood, CO2 from blood into the alveoli
d. Oxygen delivered to cells through the blood vessels; CO2 expelled during exhalation
Oxygen-rich air (poor in CO2)
is taken in during inhalation; moves to alveoli
Oxygen-poor blood (rich in CO2)
vessels surround the alveoli
Passive transport
moves the oxygen from alveoli into the blood, CO2 from blood into the alveoli
Oxygen
— delivered to cells through the blood vessels;
CO2
expelled during exhalation
Blood circulation (Blood glucose)
a. Blood sugar too high:
i. Pancreas releases insulin; body cells take in glucose and moves it to long term storage in liver (glycogen)
b. Blood sugar too low:
i. Pancreas releases glucagon; stimulates liver to break down stored glycogen (into glucose) and release into bloodstream.
Blood sugar too high
Pancreas releases insulin; body cells take in glucose and moves it to long term storage in liver (glycogen)
insulin
Pancreas releases —-; body cells take in glucose and moves it to long term storage in liver (glycogen)
glycogen
take in glucose and moves it to long term storage in liver (—-)
Blood sugar too low
i. Pancreas releases glucagon; stimulates liver to break down stored glycogen (into glucose) and release into bloodstream.
glucagon
Pancreas releases —-; stimulates liver to break down stored glycogen (into glucose) and release into bloodstream.
glucose
stimulates liver to break down stored glycogen (into —)
Genetics
Study of heredity and variation of essential character
Genetics
first coined in 1905 to describe the study of heredity
Heredity
tendency of offspring to resemble their parents
Variation
tendency of offspring to vary from their parents
“to give birth”
Greek “genno”, γεννώ; ???
Gregor Johann Mendel
Father of Classical Genetics
Gregor Johann Mendel
During his time he experimented of pea plants and made observations by counting all the offsprings of the cross fertilized pea plants which he discovered 7 characteristics that he identified to certain variations and how they are being past form parents to offspings.
Gregor Johann Mendel
He paved way to classical genetics during 1865 on particulate inheritance.
Reginald C. Punnett
Later on geneticist—- devised the Punnett square in 1905.
Punnett square
The diagram is used by biologists to determine the probability of an offspring having a particular genotype.
GENOTYPE
genetic make-up/composition
PHENOTYPE
aspects of a person you can see
MUTATION
alteration in the genetic code from what is expected
variant
Does not necessarily communicate a change is pathogenic
Chromosomes
are the structures that store genetic information in the form of DNA
46
Humans have —- chromosomes
autosomes
22 pairs
sex chromosomes
1 pair
nucleotides
The basic building block of nucleic acids (RNA and DNA).
nucleotides
consists of a sugar molecule (either ribose in RNA or deoxyribose in DNA) attached to a phosphate group and a nitrogen-containing base.
adenine (A), cytosine (C), guanine (G) and thymine (T)
The bases used in DNA are ??
nitrogenous bases
Genetic disorders/diseases
caused by mutations
mutation
— is any type of change in genetic material
mutation
are caused by:
i. Radiation
ii. Chemicals
Radiation
X-rays, sun exposure
chemicals
May contain toxic substances
sex cells
You can pass on mutations to your offspring only if the mutation is in your —
Whole chromosomes are missing OR there are extra chromosomes
This is caused by disjunction which happens during meiosis when chromosomes did not segregate or separate and distribute to the gametes properly
Trisomy 21
Down’s Syndrome
Trisomy 21
Extra copy of chromosome 21
The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births, although these statistics are heavily influenced by the age of the mother.
Trisomy 13
Patau syndrome