Patho One Exam 3 UNMC
Genotype - ANS-the actual DNA composition in an individual
Phenotype - ANS-physical appearance
Alleles - ANS-alternate forms of a gene that controls specific trait
Homozygous - ANS-two identical alleles for a trait (TT or tt)
Heterozygous - ANS-two different alleles for a trait (Tt)
Dominant traits - ANS-only one allele is needed to express the trait, dominant alleles
mask recessive alleles
Recessive traits - ANS-two identical allele for the trait must be present to be expressed;
a recessive trait (allele) can be hidden "unaffected carrier"
base-pair substitution - ANS-a different pair is substituted for the normal pair in the DNA
frameshift mutation - ANS-mutation that involves the insertion or deletion of one or more
base pairs in the DNA sequence
Genetic mutation - ANS-an error in duplication of DNA
if both parents are heterozygous for that trait, it means? - ANS-they both are unaffected
carries of the trait
autosomal recessive trait, both parents are heterozygous for that trait, it means? -
ANS-each child would have 25% chance of being affected
X-linked dominant trait, male parent has the trait, female parent is heterozygous, what
are the chances of a male offspring being affected? female offspring? - ANS-Male: 50%
Female: 100%
Autosomal Dominant - ANS-An abnormal allele is dominant
affected heterozygous individuals have 50% chance to transmit to offspring
autosomal recessive - ANS-abnormal allele is recessice (t)
, both parents of an affected child are carries
action of insulin and glucose in the body - ANS-"lock and key"
Insulin acts as the key, unlocks cell and allows glucose to enter
"Lock and key" process - ANS-insulin and glucose binds to tyrosine kinase receptors
-in response to insulin binding glute 4 moves to cell membrane & fusses allowing
glucose to pass and enter
Type one diabetes patho - ANS-beta cells are destroyed by an inappropriate
autoimmune response (virus)
little or no production of insulin
Type two diabetes patho - ANS-resistance to insulin in the cell membrane receptors or a
decreases in the number of receptors
Manifestations of untreated diabetes - ANS-polyuria (increase urine outout), polydipsia
(increase thirst), polyphagia (hunger), weakness/fatigue (poor use of food products), wt.
loss (fat & proteins broken down and used for energy)
Diabetic Ketoacidosis (DKA) - ANS-hyperglycemia of 300-800 with ketonuria
Causes of DKA - ANS-not enough insulin
illness
psycological stress
Patho of DKA - ANS-not enough insulin --> high blood sugar --> polyuria, polydipsia,
polyphagia -> fat breakdown (acidosis) --> Kussmaul Resp (blow off CO2 to
compensate for metabolic acidosis --> client becomes more acidotic as the LOC goes
down
Clinical manifestations of DKA - ANS-hyperglycemia, ketonuria, N/V, abdominal pain,
Kussmauls representations, can lead to hypotension, tachycardia, shock, and cardiac
arrhythmias
Glycogenolysis - ANS-breakdown of stored glucose
Gluconeogenesis - ANS-liver makes new glycogen from fat & proteins
causes of hypoglycemia - ANS-overdose of insulin
Genotype - ANS-the actual DNA composition in an individual
Phenotype - ANS-physical appearance
Alleles - ANS-alternate forms of a gene that controls specific trait
Homozygous - ANS-two identical alleles for a trait (TT or tt)
Heterozygous - ANS-two different alleles for a trait (Tt)
Dominant traits - ANS-only one allele is needed to express the trait, dominant alleles
mask recessive alleles
Recessive traits - ANS-two identical allele for the trait must be present to be expressed;
a recessive trait (allele) can be hidden "unaffected carrier"
base-pair substitution - ANS-a different pair is substituted for the normal pair in the DNA
frameshift mutation - ANS-mutation that involves the insertion or deletion of one or more
base pairs in the DNA sequence
Genetic mutation - ANS-an error in duplication of DNA
if both parents are heterozygous for that trait, it means? - ANS-they both are unaffected
carries of the trait
autosomal recessive trait, both parents are heterozygous for that trait, it means? -
ANS-each child would have 25% chance of being affected
X-linked dominant trait, male parent has the trait, female parent is heterozygous, what
are the chances of a male offspring being affected? female offspring? - ANS-Male: 50%
Female: 100%
Autosomal Dominant - ANS-An abnormal allele is dominant
affected heterozygous individuals have 50% chance to transmit to offspring
autosomal recessive - ANS-abnormal allele is recessice (t)
, both parents of an affected child are carries
action of insulin and glucose in the body - ANS-"lock and key"
Insulin acts as the key, unlocks cell and allows glucose to enter
"Lock and key" process - ANS-insulin and glucose binds to tyrosine kinase receptors
-in response to insulin binding glute 4 moves to cell membrane & fusses allowing
glucose to pass and enter
Type one diabetes patho - ANS-beta cells are destroyed by an inappropriate
autoimmune response (virus)
little or no production of insulin
Type two diabetes patho - ANS-resistance to insulin in the cell membrane receptors or a
decreases in the number of receptors
Manifestations of untreated diabetes - ANS-polyuria (increase urine outout), polydipsia
(increase thirst), polyphagia (hunger), weakness/fatigue (poor use of food products), wt.
loss (fat & proteins broken down and used for energy)
Diabetic Ketoacidosis (DKA) - ANS-hyperglycemia of 300-800 with ketonuria
Causes of DKA - ANS-not enough insulin
illness
psycological stress
Patho of DKA - ANS-not enough insulin --> high blood sugar --> polyuria, polydipsia,
polyphagia -> fat breakdown (acidosis) --> Kussmaul Resp (blow off CO2 to
compensate for metabolic acidosis --> client becomes more acidotic as the LOC goes
down
Clinical manifestations of DKA - ANS-hyperglycemia, ketonuria, N/V, abdominal pain,
Kussmauls representations, can lead to hypotension, tachycardia, shock, and cardiac
arrhythmias
Glycogenolysis - ANS-breakdown of stored glucose
Gluconeogenesis - ANS-liver makes new glycogen from fat & proteins
causes of hypoglycemia - ANS-overdose of insulin
