NURS 6501-Advanced Pathophysiology
Latest Update Quiz 1 Questions with
Excellent Answers Graded A
Cause of genetic disease? - Answer -a change in the sequence or cellular content of DNA that
ultimately deranges gene expression, deletion of a group of genes or an abnormal number of
chromosomes
Compare monosomies and trisomes - Answer -monosomies cause more severe physical defects
than do trisomies, illustrating the principle that the loss of chromosome material has more severe
consequences than the duplication of chromosome material.
How are cells specialized? - Answer -through the process of differentiation or maturation
How can deprivation of essential nutrients (proteins, carbohydrates, lipids, and vitamins) lead to cell
injury? - Answer -by altering cellular structure and function, particularly of transport mechanisms,
chromosomes, the nucleus, and DNA
How common are chromosome abnormalities? - Answer -1 in 150 live births, leading cause of
mental retardation and miscarriage
How do cells communicate? - Answer -(1) they form protein channels (gap junctions); (2) they
display receptors that affect intracellular processes or other cells in direct physical contact; and (3) they
use receptor proteins inside the target cell.
How does DNA replicate? - Answer -DNA molecule unwinds and each strand is a template for
complementary base pairing; each daughter helix contains an intact strand from the parent helix and a
newly synthesized strand therefore DNA replication is semiconservative
How does Fragile X present? - Answer -small joint hyperextensibility, mild hypotonia, and a family
history of intellectual disability in maternally related males
How is endocytosis done? - Answer -when the substance to be transported is engulfed by a
segment of the plasma membrane, forming a vesicle that moves into the cell.
How is intercellular signaling done? - Answer -contact-dependent, paracrine, hormonal,
neurohormonal, and neurotransmitter.
Importance of proteins in disease - Answer -The major workhorses of the cell, if misfolded they
can cause diseases
Most genetic disorders affect all cells why? - Answer -it is inherited from a mutant egg or sperm
, Prediction of disease - Answer -A marker locus, when closely linked to a disease-gene locus, can be
used to predict whether an individual will develop a genetic disease.
Recurrence risk for autosomal dominant diseases - Answer -50%
Recurrence risk for autosomal recessive diseases - Answer -25%
What are alleles? - Answer -different versions of the same gene
What are diploid somatic cells? - Answer -Body Cells
What are free radicals? - Answer -unstable oxygen-containing molecules that can damage the cells
of the body and possibly contribute to the increased risk of chronic diseases
What are haploid gametes? - Answer -sperm and egg cells
What are lysosomes and what do they do? - Answer -saclike structures that originate from the
Golgi complex and contain digestive enzymes. These enzymes are responsible for digesting most cellular
substances to their basic form, such as amino acids, fatty acids, and carbohydrates
What are mitochondria responsible for? - Answer -. Mitochondria contain the metabolic
machinery necessary for cellular energy metabolism (Makes ATP).
What are molecular biologic phenotypes? - Answer -can be detected only with a laboratory test
What are multifactorial traits? - Answer -traits that depend on multiple genes combined with
environmental influences
What are peroxisomes? - Answer -involved in the production and breakdown of hydrogen peroxide
What are polygenic traits? - Answer -traits that are controlled by two or more genes
What are some important factors in aging? - Answer -increased damage to the cell, reduced
capacity to divide, reduced ability to repair damaged DNA, and increased likelihood of defective protein
balance or homeostasis.
What are the eight specialized cellular functions? - Answer -movement, conductivity, metabolic
absorption, secretion, excretion, respiration, reproduction, and communication
What are the four abnormalities of chromosome structures? - Answer -deletions, duplications,
inversions, and translocations.
What are the four biochemical themes associated with cell injury? - Answer -(1) ATP depletion,
resulting in mitochondrial damage; (2) accumulation of oxygen and oxygen-derived free radicals, causing
membrane damage; (3) protein folding defects; and (4) increased intracellular calcium concentration and
loss of calcium steady state.
What are the four phases of the cell cycle? - Answer -(1) the S phase, during which DNA synthesis
takes place in the cell nucleus; (2) the G2 phase, the period between the completion of DNA synthesis
Latest Update Quiz 1 Questions with
Excellent Answers Graded A
Cause of genetic disease? - Answer -a change in the sequence or cellular content of DNA that
ultimately deranges gene expression, deletion of a group of genes or an abnormal number of
chromosomes
Compare monosomies and trisomes - Answer -monosomies cause more severe physical defects
than do trisomies, illustrating the principle that the loss of chromosome material has more severe
consequences than the duplication of chromosome material.
How are cells specialized? - Answer -through the process of differentiation or maturation
How can deprivation of essential nutrients (proteins, carbohydrates, lipids, and vitamins) lead to cell
injury? - Answer -by altering cellular structure and function, particularly of transport mechanisms,
chromosomes, the nucleus, and DNA
How common are chromosome abnormalities? - Answer -1 in 150 live births, leading cause of
mental retardation and miscarriage
How do cells communicate? - Answer -(1) they form protein channels (gap junctions); (2) they
display receptors that affect intracellular processes or other cells in direct physical contact; and (3) they
use receptor proteins inside the target cell.
How does DNA replicate? - Answer -DNA molecule unwinds and each strand is a template for
complementary base pairing; each daughter helix contains an intact strand from the parent helix and a
newly synthesized strand therefore DNA replication is semiconservative
How does Fragile X present? - Answer -small joint hyperextensibility, mild hypotonia, and a family
history of intellectual disability in maternally related males
How is endocytosis done? - Answer -when the substance to be transported is engulfed by a
segment of the plasma membrane, forming a vesicle that moves into the cell.
How is intercellular signaling done? - Answer -contact-dependent, paracrine, hormonal,
neurohormonal, and neurotransmitter.
Importance of proteins in disease - Answer -The major workhorses of the cell, if misfolded they
can cause diseases
Most genetic disorders affect all cells why? - Answer -it is inherited from a mutant egg or sperm
, Prediction of disease - Answer -A marker locus, when closely linked to a disease-gene locus, can be
used to predict whether an individual will develop a genetic disease.
Recurrence risk for autosomal dominant diseases - Answer -50%
Recurrence risk for autosomal recessive diseases - Answer -25%
What are alleles? - Answer -different versions of the same gene
What are diploid somatic cells? - Answer -Body Cells
What are free radicals? - Answer -unstable oxygen-containing molecules that can damage the cells
of the body and possibly contribute to the increased risk of chronic diseases
What are haploid gametes? - Answer -sperm and egg cells
What are lysosomes and what do they do? - Answer -saclike structures that originate from the
Golgi complex and contain digestive enzymes. These enzymes are responsible for digesting most cellular
substances to their basic form, such as amino acids, fatty acids, and carbohydrates
What are mitochondria responsible for? - Answer -. Mitochondria contain the metabolic
machinery necessary for cellular energy metabolism (Makes ATP).
What are molecular biologic phenotypes? - Answer -can be detected only with a laboratory test
What are multifactorial traits? - Answer -traits that depend on multiple genes combined with
environmental influences
What are peroxisomes? - Answer -involved in the production and breakdown of hydrogen peroxide
What are polygenic traits? - Answer -traits that are controlled by two or more genes
What are some important factors in aging? - Answer -increased damage to the cell, reduced
capacity to divide, reduced ability to repair damaged DNA, and increased likelihood of defective protein
balance or homeostasis.
What are the eight specialized cellular functions? - Answer -movement, conductivity, metabolic
absorption, secretion, excretion, respiration, reproduction, and communication
What are the four abnormalities of chromosome structures? - Answer -deletions, duplications,
inversions, and translocations.
What are the four biochemical themes associated with cell injury? - Answer -(1) ATP depletion,
resulting in mitochondrial damage; (2) accumulation of oxygen and oxygen-derived free radicals, causing
membrane damage; (3) protein folding defects; and (4) increased intracellular calcium concentration and
loss of calcium steady state.
What are the four phases of the cell cycle? - Answer -(1) the S phase, during which DNA synthesis
takes place in the cell nucleus; (2) the G2 phase, the period between the completion of DNA synthesis
