NURS5315Final ,f ,f
1. A patient in respiratory distress and is breathing 33 breaths per minute.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
Which ABG value is consistent with the clinical scenario?
,f ,f ,f ,f ,f ,f ,f ,f ,f
PCO2 15 ,f
pH 7.30 ,f
pH 7.45 ,f
O2 sat 100%: A patient who is breathing 33 breaths per minute is hyperventilating and
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
blowingoffCO2;thereforethePCO2levelwillbelow.Thepatientwillmostlikely experience
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
a respiratory alkalosis and the two pH values provided are not consistent with this
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
diagnosis.
,f
2. A patient has a sodium level of 115 mEq/L and is disoriented and lethargic.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
Which pathological process best explains this patient's symptoms?
,f ,f ,f ,f ,f ,f ,f ,f
a. The action potential has become hyperpolarized. ,f ,f ,f ,f ,f
b. Water has shifted into the neurons and caused them to swell. ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
c. Water has shifted into the vascular space and dehydrated the neurons. ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
d. The action potential has become hypopolarized.: b.The cause of neurologic
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
symptoms associated with a sodium imbalance is directly related to fluid shifting into or
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
out of the neurons of the brain.With a serum sodium of 115 mEq/L, water shifts into the
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
neurons and causes them to swell.Hypernatremia causes water to shift out of the cell
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
into the intravascular space and causes the neurons to become dehydrated.An
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
alterationintheactionpotentialisnotseenwithsodiumimbalances.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
3. A patient experiencing dehydration should be monitored for which elec-
,f ,f ,f ,f ,f ,f ,f ,f ,f
trolyte imbalance?
,f ,f
a. Hyperkalemia
b. Hypocalcemia
c. Hypercalcemia
d. Hyponatermia: a. Serum osmolality is increased during times of dehydration. An ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
elevated serum osmolality will pull potassium into the intravascular space from the
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
intracellular space and cause a rise in serum potassium.
,f ,f ,f ,f ,f ,f ,f ,f ,f
4. A married couple presents to your office for genetic counseling.The hus-
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
band has an autosomal recessive disease and his wife has a heterozygous
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
genotypefor the disease.They ask you,What is the chance that our baby will have
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
the disease?Which of the following answers is correct?
,f ,f ,f ,f ,f ,f ,f ,f ,f
25%
50%
75%
100%: A chromosome is a package of material located inside the cell nucleus which is
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
made of proteins and a single molecule of DNA.There are 23 pairs of chromosomes in
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
each human cell for a total of 46 chromosomes.Chromosomes are separated into two
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
identical sets during mitosis or meiosis.This provides a set
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
,f ,f
, NURS5315Final ,f ,f
ofchromosomestoeachdaughtercellwhichresultsfromcelldivision.Thisprocess is
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
responsible for the transfer of genetic information to the daughter cells.The first 22pairs
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
ofchromosomesareknownasautosomes.The23rdpairofchromosomes is the pair
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
which contains the genetic information for gender.This pair contains
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
the genetic information which delineates between the male and female genders.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
Femaleshave two X chromosomes (XX) and maleshave anXY chromosome pair.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
Autosomal chromosomes are said to be autologous.This means they do not carry
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
genetic information pertaining to gender. Autosomal genetic diseases are carried on
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
the first 22 pairs of chromosomes.Sex-linked diseases are only carried on
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
the 23rd pair of chromosomes.The autosomal chromosomes are nearly identical to
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
one another and are considered homologous to one another.Each autosomal
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
chromosomeinapaircarriesidenticalgenes.Thesetwogenesareknownasalleles. The
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
alleles occupy the same site on each partner of the chromosome pair and code for the
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
same genetic trait or physiologic function.Alleles can be dominant or recessive.One
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
allelemaybedominantandtheotherrecessive,ortheybothmaybe dominantorboth
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
recessive.Thedominantalleles'geneticcodewillalwaysmanifest in the individual's
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
phenotype.The information in the recessive allele is typically not expressed in the
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
phenotype unless both alleles are recessive.For the purpose of clarityinuse,the
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
dominantgeneisassignedacapitalletterandtherecessivegene is assigned a lower
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
case letter.Any letter is okay to use but make sure you use the sameletterforthe
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
genotype-forexample,"Bboraa."Thetermhomozygousrefers to a pair of alleles which
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
are either both dominant or recessive.For example, "BB or bb" are said to be
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
homozygous because the alleles are either both dominant or recessive.An allele pair in
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
which one isdominantand oneis recessive issaid to be heterozygous. In autosomal
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
recessive disorders both alleles on the chromosome are affected by the genetic
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
aberration.If only one recessive gene is affected by
,f ,f ,f ,f ,f ,f ,f ,f ,f
the genetic aberration then the person is said to be a carrier and will not have the
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
phenotypicexpressionofthedisease.Thehealthy,recessiveallelewillcompensate for ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
the allele which is affected by the genetic aberration.The carrier can pass the trait but
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
does not have the genetic disease.In an autosomal dominant disorder the dominant
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
gene is the only gene that has to be affected by the genetic aberration in order to have
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
the phenotypic expression of the disease.A healthy recessive allele cannot
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
compensateforadiseaseddominantallele.Inordertoanswerthisquestion one must
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
understand the above information and draw a Punnett Square.
,f ,f ,f ,f ,f ,f ,f ,f ,f
Thehusbandhasanautosomalrecessivediseasewhichmeanshisgenotypemust be aa.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
The wife has a heterozygous genotype for the disease which means her genotype is Aa.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
The capital A reflects a healthygene so she is merelya carrier and doesnotexpressthe
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
diseasephenotype.Thefather'sgenotypeiswrittenacrossthe
,f ,f ,f ,f ,f ,f ,f ,f ,f
,f ,f
, NURS5315Final ,f ,f
top line and the mother's genotype is written in the boxes to the left. The four boxes in the
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
middle are the possible genotypes of their offspring. Each box represents a 25% chance
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
for the offspring to have that particular genotype. The question asks you to determine
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
the chances the offspring will have the autosomal recessive disease or in other words,
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
express the phenotype for the disease. The genotype which will result in the disease is
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
"aa." Therefore, there is a 50% chance that their offspring will have the autosomal
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
recessive disease.
,f ,f
5. A child is diagnosed with hemophilia.This is an example of which genetic
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
concept?
,f
Phenotype
Genotype
,f
Autosomal transmission of the disease ,f ,f ,f ,f
Transcription: The expression of a genetic disease is an example of a phenotype. A ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
genotypeis a gene'sprogramming.Hemophilia istransmitted on thex-chromosome and
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
is not transmitted via the autosomes.This is not an example of transcription.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
6. Dehydration triggers which physiologic response? ,f ,f ,f ,f
Increased secretion of renin. ,f ,f ,f
Increase secretion of natriuretic peptides. ,f ,f ,f ,f
Decreased secretion ofantidiuretic hormone.
,f ,f ,f ,f ,f
Decreased serum osmolality.: Dehydration will trigger the release of renin when rena ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
perfusionisimpaired.Theotheranswersareseenduringtimesoffluidvolume overload.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
7. A patient on hydrochlorothiazide has a pH of 7.49 and a bicarbonate of 30.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
Which of the following pathological processes best explains the abnormal lab
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
values?
,f
a. Anaccumulationofpancreaticbicarbonatesecondarytovomitingandloss of
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
hydrochloric acid
,f ,f
b. An increased absorption of Na+ and HCO3- in the proximal renal tubule
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
secondary to increased aldosterone secretion
,f ,f ,f ,f ,f
c Excessive exhalation of CO2 secondary to hyperventilation
,f ,f ,f ,f ,f ,f ,f
d. Distal renal tubular dysfunction causing an accumulation of hydrogen ions:
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
ThepHvalueandbicarbonatevalueareconsistentwithametabolicalkalosis. Themost
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
likelycauseofthemetabolicalkalosisistheuseofthehydrochlorothiazide (HCTZ).This is
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
a thiazide diuretic which can cause a metabolic alkalosis.The use of a thiazide diuretic
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
will increase the secretion of aldosterone which stimulates the reabsorption of Na+
,f ,f ,f ,f ,f ,f ,f ,f , f ,f ,f ,f
and HCO3- in the proximal tubule of the kidney.This is a response directly related to
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
hypovolemia secondary to the diuretic use.Option A
,f ,f ,f ,f ,f ,f ,f ,f
,f ,f
1. A patient in respiratory distress and is breathing 33 breaths per minute.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
Which ABG value is consistent with the clinical scenario?
,f ,f ,f ,f ,f ,f ,f ,f ,f
PCO2 15 ,f
pH 7.30 ,f
pH 7.45 ,f
O2 sat 100%: A patient who is breathing 33 breaths per minute is hyperventilating and
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
blowingoffCO2;thereforethePCO2levelwillbelow.Thepatientwillmostlikely experience
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
a respiratory alkalosis and the two pH values provided are not consistent with this
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
diagnosis.
,f
2. A patient has a sodium level of 115 mEq/L and is disoriented and lethargic.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
Which pathological process best explains this patient's symptoms?
,f ,f ,f ,f ,f ,f ,f ,f
a. The action potential has become hyperpolarized. ,f ,f ,f ,f ,f
b. Water has shifted into the neurons and caused them to swell. ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
c. Water has shifted into the vascular space and dehydrated the neurons. ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
d. The action potential has become hypopolarized.: b.The cause of neurologic
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
symptoms associated with a sodium imbalance is directly related to fluid shifting into or
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
out of the neurons of the brain.With a serum sodium of 115 mEq/L, water shifts into the
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
neurons and causes them to swell.Hypernatremia causes water to shift out of the cell
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
into the intravascular space and causes the neurons to become dehydrated.An
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
alterationintheactionpotentialisnotseenwithsodiumimbalances.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
3. A patient experiencing dehydration should be monitored for which elec-
,f ,f ,f ,f ,f ,f ,f ,f ,f
trolyte imbalance?
,f ,f
a. Hyperkalemia
b. Hypocalcemia
c. Hypercalcemia
d. Hyponatermia: a. Serum osmolality is increased during times of dehydration. An ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
elevated serum osmolality will pull potassium into the intravascular space from the
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
intracellular space and cause a rise in serum potassium.
,f ,f ,f ,f ,f ,f ,f ,f ,f
4. A married couple presents to your office for genetic counseling.The hus-
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
band has an autosomal recessive disease and his wife has a heterozygous
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
genotypefor the disease.They ask you,What is the chance that our baby will have
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
the disease?Which of the following answers is correct?
,f ,f ,f ,f ,f ,f ,f ,f ,f
25%
50%
75%
100%: A chromosome is a package of material located inside the cell nucleus which is
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
made of proteins and a single molecule of DNA.There are 23 pairs of chromosomes in
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
each human cell for a total of 46 chromosomes.Chromosomes are separated into two
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
identical sets during mitosis or meiosis.This provides a set
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
,f ,f
, NURS5315Final ,f ,f
ofchromosomestoeachdaughtercellwhichresultsfromcelldivision.Thisprocess is
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
responsible for the transfer of genetic information to the daughter cells.The first 22pairs
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
ofchromosomesareknownasautosomes.The23rdpairofchromosomes is the pair
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
which contains the genetic information for gender.This pair contains
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
the genetic information which delineates between the male and female genders.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
Femaleshave two X chromosomes (XX) and maleshave anXY chromosome pair.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
Autosomal chromosomes are said to be autologous.This means they do not carry
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
genetic information pertaining to gender. Autosomal genetic diseases are carried on
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
the first 22 pairs of chromosomes.Sex-linked diseases are only carried on
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
the 23rd pair of chromosomes.The autosomal chromosomes are nearly identical to
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
one another and are considered homologous to one another.Each autosomal
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
chromosomeinapaircarriesidenticalgenes.Thesetwogenesareknownasalleles. The
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
alleles occupy the same site on each partner of the chromosome pair and code for the
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
same genetic trait or physiologic function.Alleles can be dominant or recessive.One
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
allelemaybedominantandtheotherrecessive,ortheybothmaybe dominantorboth
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
recessive.Thedominantalleles'geneticcodewillalwaysmanifest in the individual's
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
phenotype.The information in the recessive allele is typically not expressed in the
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
phenotype unless both alleles are recessive.For the purpose of clarityinuse,the
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
dominantgeneisassignedacapitalletterandtherecessivegene is assigned a lower
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
case letter.Any letter is okay to use but make sure you use the sameletterforthe
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
genotype-forexample,"Bboraa."Thetermhomozygousrefers to a pair of alleles which
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
are either both dominant or recessive.For example, "BB or bb" are said to be
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
homozygous because the alleles are either both dominant or recessive.An allele pair in
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
which one isdominantand oneis recessive issaid to be heterozygous. In autosomal
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
recessive disorders both alleles on the chromosome are affected by the genetic
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
aberration.If only one recessive gene is affected by
,f ,f ,f ,f ,f ,f ,f ,f ,f
the genetic aberration then the person is said to be a carrier and will not have the
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
phenotypicexpressionofthedisease.Thehealthy,recessiveallelewillcompensate for ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
the allele which is affected by the genetic aberration.The carrier can pass the trait but
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
does not have the genetic disease.In an autosomal dominant disorder the dominant
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
gene is the only gene that has to be affected by the genetic aberration in order to have
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
the phenotypic expression of the disease.A healthy recessive allele cannot
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
compensateforadiseaseddominantallele.Inordertoanswerthisquestion one must
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
understand the above information and draw a Punnett Square.
,f ,f ,f ,f ,f ,f ,f ,f ,f
Thehusbandhasanautosomalrecessivediseasewhichmeanshisgenotypemust be aa.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
The wife has a heterozygous genotype for the disease which means her genotype is Aa.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
The capital A reflects a healthygene so she is merelya carrier and doesnotexpressthe
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
diseasephenotype.Thefather'sgenotypeiswrittenacrossthe
,f ,f ,f ,f ,f ,f ,f ,f ,f
,f ,f
, NURS5315Final ,f ,f
top line and the mother's genotype is written in the boxes to the left. The four boxes in the
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
middle are the possible genotypes of their offspring. Each box represents a 25% chance
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
for the offspring to have that particular genotype. The question asks you to determine
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
the chances the offspring will have the autosomal recessive disease or in other words,
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
express the phenotype for the disease. The genotype which will result in the disease is
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
"aa." Therefore, there is a 50% chance that their offspring will have the autosomal
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
recessive disease.
,f ,f
5. A child is diagnosed with hemophilia.This is an example of which genetic
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
concept?
,f
Phenotype
Genotype
,f
Autosomal transmission of the disease ,f ,f ,f ,f
Transcription: The expression of a genetic disease is an example of a phenotype. A ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
genotypeis a gene'sprogramming.Hemophilia istransmitted on thex-chromosome and
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
is not transmitted via the autosomes.This is not an example of transcription.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
6. Dehydration triggers which physiologic response? ,f ,f ,f ,f
Increased secretion of renin. ,f ,f ,f
Increase secretion of natriuretic peptides. ,f ,f ,f ,f
Decreased secretion ofantidiuretic hormone.
,f ,f ,f ,f ,f
Decreased serum osmolality.: Dehydration will trigger the release of renin when rena ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
perfusionisimpaired.Theotheranswersareseenduringtimesoffluidvolume overload.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
7. A patient on hydrochlorothiazide has a pH of 7.49 and a bicarbonate of 30.
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
Which of the following pathological processes best explains the abnormal lab
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
values?
,f
a. Anaccumulationofpancreaticbicarbonatesecondarytovomitingandloss of
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
hydrochloric acid
,f ,f
b. An increased absorption of Na+ and HCO3- in the proximal renal tubule
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
secondary to increased aldosterone secretion
,f ,f ,f ,f ,f
c Excessive exhalation of CO2 secondary to hyperventilation
,f ,f ,f ,f ,f ,f ,f
d. Distal renal tubular dysfunction causing an accumulation of hydrogen ions:
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
ThepHvalueandbicarbonatevalueareconsistentwithametabolicalkalosis. Themost
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
likelycauseofthemetabolicalkalosisistheuseofthehydrochlorothiazide (HCTZ).This is
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
a thiazide diuretic which can cause a metabolic alkalosis.The use of a thiazide diuretic
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
will increase the secretion of aldosterone which stimulates the reabsorption of Na+
,f ,f ,f ,f ,f ,f ,f ,f , f ,f ,f ,f
and HCO3- in the proximal tubule of the kidney.This is a response directly related to
,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f ,f
hypovolemia secondary to the diuretic use.Option A
,f ,f ,f ,f ,f ,f ,f ,f
,f ,f
