NURS 6501-Advanced Pathophysiology
Quiz 1
.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
Quiz 1
.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
