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Chromosomal gene disorders
Gametes have abnormal chromosome numbers and mutation
-offspring inherit extra chromosome or are missing one
-caused by problems with meiosis
Down syndrome is an example of a _________ gene disorder
chromosomal
Single gene disorders
correct number of chromosomes, but one of the chromosomes contains a gene that is responsible for the disease
Cystic Fibrosis is an example of a ________ gene disorder
single
Down Syndrome
occurs when 21st chromosome pairs don't separate properly during meiosis- child gets 3 chromosomes of 21st pair. Caused by a recessive allele.
Hemophilia is a example of a ___________ gene disorder
single
can a man be a carrier for a sex linked disease?
no
hemophilia
mutations in DNA that prevent blood clotting proteins from being made caused by a sex-linked recessive allele
-only linked to X sex chromosome
Xn Xn or Xn Y
Genotype
refers to alleles
phenotype
refers to appearance
how many human diseases are thought to be inherited?
4,000
how many genetic tests available to doctors
900
In vitro fertilization
tests can be run on embryos created this way prior to implantation
DTC= Direct to consumer tests
-not regulated by FDA
-consumers don't usually have enough knowledge about genetics to understand the results
genetic tests positives
-not as worried about getting a disease
-might be able to change lifestyle to reduce risk of getting disease
-your doctor will now how often to check to see if the disease is developing
-you might be able to take medicine to prevent the disease
Genetic test negatives
-may make you more worried
-may cause feeling of guilt or strain on family relationships
amniocentesis
around age 45 risk of having a child with down syndrome exceeds risk of miscarriage
-before 45: test not done
-after 45: test is more common
Human are made out of about _______ types of proteins
2 million
humans run on the energy of _______ converted from ______ and ______
ATP;glucose and fats
major function of a typical cell is to
produce proteins
What is required for the process of cells producing proteins
ATP
Cellular respiration
Process by which energy of sugar(glucose) is converted into the energy of ATP
The energy is needed for all cells to perform their function comes from......
ATP-made during cellular respiration
Where do the "raw materials" needed for cellular respiration come from?
The food we eat and the air we breath
Where does cellular respiration take place
the mitochondria of the cell
C6H12O6+O2+ADP+P
ATP+Co2+H2O
Energy for contraction of muscle is supplied by
ATP
Cellular respiration "recharges" ADP back to
ATP(reconnects the phosphate)
during cellular respiration energy is neither _____ nor _________
created;destroyed
ATP Tri Phosphate
3 phosphate groups
high energy state
more available energy for the cell
ATP analogous to fully charged battery
energy can be used to do the cell's work
as the cell uses ATP, it "drains the battery"
ADP Di-phosphate
-2 phosphate groups
lower energy state
-no available energy for the cell
ADP analogous to dead battery
energy is used up
3 types of food molecules
protein, fat, carbohydrates
protein
chains of amino acids
fat
glycerol bonded to 3 fatty acids
carbohydrates
individual or chains of simple sugar units
True or false? Humans produce an enzyme to digest cellulose
FALSE.
Passes through the digestive system undigested
cellulose is referred to as fiber
Why digest our food?
-food we eat is too complex to be used "as is"
-must be broken down into simpler molecules
-cellular respiration requires GLUCOSE
Digestive tract includes
mouth, pharynx, esophagus, stomach, small intestine , large intestine, and rectum
digestive tract definition
a tube that passes through the body and the contents of the tube aren't actually "in" the body yet
digestive system
functions to break down the food particles inside the tube into small enough pieces to be passes across the wall of the tube (small intestine) into the blood stream
breakdown process accomplished using secretions from accessory glands
salivary glands:mouth
gastric:stomach
pancreas: small intestine
liver: small intestine
after moving through the tube and encountering all of these digestive secretions, the food is broken down into its smallest unites so it can be absorbed into the blood from the ____________
small intestine
large intestine
functions primarily to remove water from the digestive tube to conserve water and keep the body hydrated
amylase from salivary glands converts some starch to....
maltose
True or False? there is no digestion of starch in stomach
true
what coverts starch to maltose
amylase from pancreas
what converts maltose to glucose
maltase from small intestine
glucose is absorbed through the ______________________________ to circulate throughout the body
walls of the small intestine
Is there digestion of proteins in the mouth?
no; mechanical breakdown but no digestion
What converts some protein into shorter polypeptides
HCL and pepsin from gastric glands
the stomach has a protective mucus layer that allows....
proteins to be digested without digesting the proteins of the stomach itself
salivary glands
amylase
gastric glands
HCL and pepsin
pancreas
amylase, trypsin, lipase
liver
bile
small intestine
maltase and peptidase
what converts short polypeptides into amino acids
peptidase from small intestine
Most digestion of food molecules is completed in the?
Small intestine
molecules are broken down in to their smallest parts and are across across the _________ ____ into the _____________ of the intestine
intestinal wall;capillaries
small intestine-hepatic portal vein..
-liver-circulatory system-body cells (used for energy and protein/fat synthesis)
what converts remaining protein into shorter polypeptides
trypsin from pancreas
No digestion of fat in.....
the mouth and stomach
what break down fat to fat droplets
bile from liver
what converts fat droplets to fatty acids and glycerol
lipase from the pancreas
moat digestion of food molecules is completed in the...
small intestine
absorption of food molecules: food molecules must be....
small enough to move into capillaries
simpler molecules must be transported throughout the body to every cell because?
ATP is NOT centrally made and transported; each cell makes its own ATP
how does digested food molecules move?
from small intestine-blood-liver
liver-circulatory system-heart-body cells
functions of the heart
-pump blood to lungs to get oxygen and get rid of carbon dioxide
-pump blood to organs and cells of body to supply nutrients and pickup waste
cross-section of the heart
heart=2 distinct pumps
valves are present between the atria and ventricles that keep blood flowing in one direction
order of blood flow
right atrium-right ventricle- lungs-left atrium-left ventricle-body
cardiac cycle
1. atria and ventricles relaxed
2. atria contract
3. ventricles contract
why does the heart muscle contract
due to electrical signals generated by nervous tissue contained within the heart
What are the three masses of nervous tissues that generate electrical signals
SA node
AV node
Purkinje fibers
SA node
collection of neural cells that stimulates contraction of the atria that sends blood through the AV valves to the ventricles
AV node
collection of neural tissue that carries the implies down to the ventricles and causes the ventricles to contract forcing the blood out of the heart
purkinje fibers
neural cells that carry the impulse throughout the ventricular muscle tissue
electrocardiogram(EKG or ECG)
p wave
QRS
t wave
P wave
prior to atrial contraction
QRS
prior to ventricular contraction
T wave
occurs when ventricles recovering from contraction
arteries
carry blood away from the heart to the body
viens
return blood from the body back to the heart
diet and heart disease
1. high intake of saturated fat
2. increase in LDL; HDL ratio
3. increased deposition of cholesterol in arteries of the heart
4. blockage of arteries and death of heart muscle
saturated fat
molecules have hydrogens attached to each carbon atom
unsaturated fat
some hydrogens missing
LDL(low- density lipoprotein)
the "bad" cholesterol that deposits fatty particles in your blood vessels to form plaques and block arteries
HDL(High-density lipoprotein)
the "good" cholesterol that carries fatty particles from your blood vessels
total of _____ mg/dL or below is healthy
200
LDL below ______, HDL above _______
130;45
French paradox
French have low rates of heart disease but consume high amounts of saturated fat. They consume wine with every meal; wine might help with heart disease
J shaped curve hypothesis
top: high levels
curve: low levels
end: no level
high levels
excessive alcohol consumption is associated with the highest level of health problems
low levels
moderate alcohol consumption is associated with fewer health problems than no alcohol consumption
no level
no alcohol consumption is associated with more health problems than moderate alcohol consumption
benefits of moderate drinking
alcohol beverages offer pharmacological benefits, especially to people at elevated risk of heart disease
is drinking a substitute for exercise, eating a heathy diet or giving up cigarettes
NO!!
Guidelines of the US department of health and human services defines moderate drinking as:
-no more than one drink a day for most women
-no more than two drinks a day for most men
-a standard drink is considered to be 12 ounces of beer, 5 ounces of wine, 1.5 ounces of 80-proof distilled spirits