FINAL!!!!!!!!! Flashcards
What is genetics?
study of the passage of traits from one generation to the next
what are genes?
structure of the DNA which holds the information for genetic traits
Where are chromosomes found?
nuclei of cells
Nuclei of somatic cells contain
46 chromosomes in humans
When is the amount of chromosomes determined?
fertilization
The 46 chromosomes are arranged in
homologous pairs
What are autosomal chromosomes?
chromosomal pairs 1-22
Chromosome pair 23 is
the sex chromosomes
what are sex chromosomes?
chromosomes that determine the sex of the individual
In humans, the mother will donate
the X chromosome
In humans, the father will donate
an X or Y chromosome
What determines the sex of an offspring?
the sperm
XX=
female
XY=
male
Since X and Y are not homologous,
there will be different information on these two chromosomes
The Y chromosome gives the information for
maleness
Male and female embryos develop identically until
7 weeks after fertilization
What happens at 7 weeks of fertilization?
the Y gene will become male. If there is no Y gene a female is the result
what is the SRY gene?
sex determining region of the Y chromosome
How does the SRY function?
it inserts into a genetically female fetus and develops it into a male
When fertilization occurs, the genes inherited from the father
and combined with the genes inherited from the mother
What are alleles?
variations of a gene
An example of an allele is
hair color
Where is the gene for hair color found>
one of the autosomes
If the mother and father contribute the same alleles (both have brown hair)
the person is said to be homozygous
If the alleles are different they are said to be
heterozygous
Dominant alleles control
a particular trait
In order for a recessive trait to be expressed,
the individual needs to have a double dose. I.E. homozygous
what is a genotype?
genetic makeup of an organism
the trait expressed is called the
phenotype
Type A and B blood are
codominant
Type O blood is
recessive
In order for a person to have type O blood,
both parents must be type O
Most genetic disorders are due to
the presence of the recessive gene
In order for a genetic disorder to occur,
the individual must be homozygous recessive
What happens to a heterozygous recessive individual?
they are not affected but can pass the gene off onto their offspring
what are carriers?
heterozygous recessive
what is the most common lethal genetic disease?
cystic fibrosis
what is PKU?
phenylketonuria
what is phenylketonuria?
recessive disease where the individual lacks the enzyme that breaks down phenylalanine (an amino acid)
what does phenylketonuria cause?
brain damage and mental retardation due to the build up of phenylalanine
In most states, there is
mandatory testing of newborns for PKU
In a dominant genetic disorder,
both homozygous and heterozygous are affected
what is huntingtons disease?
degenerative disease of the nervous system
huntingtons disease has no
phenotypic expression until 35-45 years of age
what is a punnett square?
process to determine what % of children will be affected by genetic disorders
What is DNA?
a sequence of nucleotides strung together
DNA is broken down into
chromosomes
chromosomes are broken down into
individual genes
Each gene is coded for
one trait
A human has about how many genes?
35,000
how many genes are on each chromosome?
750
If you are a female you will have
23 paired chromosome
If you are a male, you will have
22 paired chromosomes and one pair that doesn’t match
Y chromosomes have genes for
sex characteristics only
X chromosomes have genes dfor
characteristics and other traits
what is a genotype?
listing of the alleles present
what is a phenotype?
what is visually seen.
What does cystic fibrosis lead to?
increased thickness of mucus
If N is no cystic fibrosis and n is cystic fibrosis:
Nn=carrier
NN=normal
nn=cystic fibrosis
It is important in cell division that
chromosomal pairs divide equally
What is nondisjunction?
unequal distribution of chromosomes in the gametes and problems in the offspring
what is down’s syndrome?
occurs during meiosis and results in an individual with 47 chromosomes instead of 46
What is the extra chromosome in down’s syndrome called?
tripsomy 21 because it is found in the chromosomal pair 21
What does down’s syndrome cause?
mental retardation and some physical problems
what makes down’s syndrome more common?
A mother high in age
What is Turner’s syndrome?
XO. Female because there is no SRY gene. Nonreproductive
what is meta female syndrome?
XXX. True female. Overproduction of estrogen causes health concerns
what is klinefelter’s syndrome?
XXY. Male but will have female characteristics.
klinefelters syndrome will result in
breasts, poor beard growth, wide hips and reduced fertility
what is Jacob’s syndrome?
XYY. nondisjunction. Overproduction of testosterone causes health concerns
What is YO?
will not survive because there is no X chromosome
There are some traits that will be passed on to males but rarely to females, in these cases
the mother is the carrier
what are some problems due to the X chromosome?
color blindness
hemophilia
Only on the X chromosome will there be information for
the development of cones of the eyes
what are the cones of the eyes?
color receptors
the ability to see color is dependant on
the X chromosome
Colorblindness is
recessive
In a female, one X may have the gene for colorblindness but
it will usually be masked by a normal gene on the other X chromosome.
In a male, if the X mom carries the gene for colorblindness,
the Y from dad will not mask it.
What is hemophilia?
a sex-linked condition that results in the inability of the blood to clot
In hemophilia, the X chromosome
contains coding for some essential clotting factors
Hemophilia is rarer in
females
What is hemopoiesis?
the process by which blood cells are formed
what is a hemocytoblasts?
the stem cell that gives rise to RBCs, WBCs and platelets
what is hemoglobin?
4 polypeptide chains with a HEME structure
what is erythropoiesis?
the process of RBC production
what is a reticulocyte?
cell that will mature into a erythrocyte that has a biconcave shape
what is hypoxia?
lack of adequate oxygen in the tissues
what is anemia?
condition of reduced oxygen-carrying ability in the blood
what causes anemia?
reduced levels of hemoglobin
what is polycethemia?
abnormal increase of RBCs that causes the blood to become thicker and less oxygen getting to the tissues
what is a granulocyte?
cells that have 1 lobed nucleus and granules in the cytoplasm
what are some examples of granulocytes?
neutrophils, eosinophils and basophils
what is an agranulocyte?
cells with no granules in the cytoplasm
what are some examples of agranulocytes?
lymphocytes and monocytes
what is chemotaxis?
attraction of phagocytes to microbes by chemical stimulus
what is diapedisis?
process by which WBCs leave the blood
what is a thrombocyte?
platelet
what is a megakaryote?
forms after a hemocytoblasts and will become a thrombocyte
what is hemostasis?
stoppage of bleeding
what is coagulation?
when a clot is formed in the injured area
what is fibrinolysis?
removes the unneeded clot when healing occurs
what is t-pa?
substance that converts plasminogen into plasmin
what is the function of tpa?
removal of the clot
what is plasminogen?
an inactive blood protein
what is a thrombus?
a clot
what is an embolus?
a clot that flows freely in the blood
what is an antigen?
glycolipids on the surface of RBCs that are genetically determined
what are antibodies?
substance found in the plasma that reacts with the antigens of other blood types
what is hemolytic disease of the newborn?
when the mother is RH- and the fetus is Rh +
what are the main components of whole blood?
plasma and formed elements
what are formed elements?
RBC, WBC and platelet
Most of whole blood is
plasma
Most of the formed elements are
RBCs
the absence of a nucleus in a erythrocyte causes
more room for hemoglobin
the biconcave shape of an RBC will result in
increased surface area for gas diffusion and gives the cells flexibility to fit through small vessels/
What is the process of erythropoiesis?
hemocytoblasts
reticulocyte
erythrocyte
hemocytoblasts have
a nucleus
reticulocytes and erythrocytes have
no nuclei
How long does erythropoiesis take?
1-2 days
what is hemorrhagic anemia?
blood loss leading to a decreases number of RBCs
what is hemolytic anemia?
RBCs rupture prematurely
what is aplastic anemia?
pathology of the red bone marrow
what is dietary anemia?
not enough iron in the blood to carry oxygen
what is pernicious anemia?
lack of intrinsic factor
what is sickle cell anemia?
RBC loses its round shape and sickles
what is the function of a neutrophil?
phagocytosis
what is the function of a eosinophil?
parasitic worms
what is the function of a basophil?
heparin and histamines
what is the function of a lymphocyte?
antibody production
what is the function of a monocyte?
phagocytosis
what are the three phases to hemostasis?
vascular spasms
platelet plug formation
coagulation
how long does it take for vascular spasms to occur?
immediately
how long does platelet plug formation take?
1-2 minutes
what are the three phases to platelet plug formation?
platelet adhesion
platelet activation
platelet aggregation
what is the intrinsic pathway of coagulation?
factor 12 calcium factor ten (common pathway) prothrombinase turns prothrombin into thrombin thrombin turns fibrinogen into fibren
what is the extrinsic pathway of coagulation?
factor three calcium factor ten (common pathway) prothrombinase turns prothrombin into throbin thrombin turns fibrinogen into fibren
what is the effect of aspirin on coagulation?
antiprostaglandin prevents prostaglandin from being released. Plug is not formed completely
what is Coumadin?
anticoagulant that inhibits the formation of a clot
what is nitroglycerin?
vasodilator given during a myocardial infarction
Type A blood:
has A antigens and B antibodies
Type B blood has
B antigens and A antibodies
Type AB blood has
A and B antigens and no antibodies
Ty[e O blood has
no antigens and A and B antibodies
who is the universal donor?
type o
who is the universal recipient?
AB
What is the treatment for hemolytic disease of the newborn?
rhogam injections
what is the pericardium?
outer sac that covers the heart
what is the chordae tendinae?
connects the atrioventricular valves to the papillary muscles
what is a myocardial infarction?
heart attack
what is the pacemaker?
the SA node that sets up the impulse.
what is a heart murmur?
sound heard before the lubb-dupp that masks the normal heart sounds
what causes a heart murmur?
a valve not closing completely
what is systole?
phase of contraction
what is diastole?
phase of relaxation
what is cardiac output?
amount of blood ejected by the left ventricle per minute
what is stroke volume?
amount of blood ejected from the left ventiricle per beat
what is starlings law?
an increased preload due to exercise leads to an increase in cardiac output by causing an increase in stroke volume
what are beta blockers?
medication given to decrease the heart rate
what composes the pericardial sac?
fibrous pericardium
serous pericardium
what is the fibrous pericardium?
outer layer that surrounds the heart
what is the serous pericardium
thinner membrane with 2 layers
what are the two layers of the pericardium?
parietal and visceral pleura with a pericardial space
what is the epicardium?
external layer of the heart
what is the myocardium?
cardiac muscle layer of the heart. largest layer
what is the endocardium?
thin layer of endothelium lining the heart continuous with the endothelial lining of the vessels
what are the four chambers of the heart?
right and left atrium
right and left ventricles
what are the four valves of the heart?
aortic semilunar valve
pulmonary semilunar vavle
tricuspid
bicuspid
where does the impulse start in the heart
SA node
what is the p wave of an EKG represent?
spread of impulse from the SA node throughout the atria leading to contraction of the atria
what does the t wave represent?
ventricular repolarization
what is the PQ interval?
beginning of atrial excitation to the beginning of ventricular excitation
what is the QT interval?
start of the QRS complex to the end of the T wave
when are the cuspid valves open?
atrial systole
when are the cuspid valves closed?
ventricular systole
When are the semilunar valves open?
ventricular systole
How do you change the cardiac output?
change the stroke volume or heart rate
How does the sympathetic nervous system affect the cardiac output?
releases noephrinepine which increases the heart rate.
How does the parasympathetic nervous system affect the nervous system?
releases acetycholine which slows down the heart rate
what is an artery?
carries blood away from the heart (usually oxygenated)
what is an arteriole?
connects arteries with capillaries
what is a capillary?
site of material moving in and out of the circulatory system
what is a venule?
connects capillaries with the veins
what is a vein?
carries blood towards the heart
what is bulk flow?
large amounts of ions, proteins, other nutrients and water
what is an edema?
abnormal increase in interstitial fluid
What is hypotension?
low blood pressure
what is hypertension?
high blood pressure
what is an aneurysm?
localized dilation of an artery normally found in the brain or aorta
what is altherosclerosis?
fatty deposits forming in the vessel wall and sometimes bulging into the lumen
what is the result of altheroscelerosis?
blood clots
what is arteriosclerosis?
end product of altherosclerosis. vessels lose their elasticity
what is shock?
inadequate perfusion of tissues
what are the layers of arteries and veins?
tunica interna
tunica media
tunica externa
what is the thickest layer of the arteries?
tunica media