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WISE Financial Literacy Certification Term Review
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- Pathophysiology EXAM 4 UTA
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- Pathophysiology EXAM 4 UTA
WISE Financial Literacy Certification Term Review
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PCOL 838 EXAM 1What are the purines and pyrimidines? - ANS-purines: adenine, guanine
pyrimidines: cytosine, uracil, thymine
What are some examples of the cause of mutations in DNA? - ANS-cellular metabolism,
UV light exposure, ionizing radiation, chemical exposure, replication errors
What happens when the DNA is damaged/a mutation occurs? - ANS-cell cycle
checkpoint activation, transcriptional program activation, DNA repair, apoptosis
What is the definition of a gene? - ANS-A segment of DNA encodes a product
responsible for a measurable trait.
What are the coding and noncoding regions of DNA? - ANS-exons: coding regions
introns: spliced out
What are the different types of mutations? - ANS-• Single nucleotde change /
Substitution --> single nucleotide polymorphism (SNP)
• Insertion and deletion (INDELS)
Chromosomal rearrangement:
• Aneuploidy
• Inversion
• Translocation
What is the difference between nonsense, silent, and missense mutations? - ANS-•
Nonsense mutations are often deleterious.
• Silent mutations and some missense mutation maybe
hereditable, and become an allele in the population -->
variation
• Missense mutation: Amorphic, neomorphic, hypermorphic,
hypomorphic, Antimorphic
What gives rise to alleles? - ANS-single nucleotide polymorphism (SNP) and insertion
deletions (INDELS) give rise to different versions of a same gene, known as alleles.
What are Metacentric, Submetacentric, Acrocentric, Telocentric chromosomes? -
ANS-Metacentric: p and q arm are the same
Submetacentric: p arm is slightly shorter than the q arm
,acrocentric: very little p-arm, normal q arm
telocentric: no p arm, q arm still present
What is Klinefelter syndrome? - ANS-most common type of primary hypogonadism
(defect is at gonadal level)
XXY genotype
Male phenotype at birth but failure to mature sexually
at puberty
At puberty, testes become fibrotic and seminiferous tubules
are largely destroyed
Low to low-normal circulating testosterone levels
High estrogen:androgen ratio can lead to feminization
Treated with androgen replacemen
What is aneuploidy? What is a condition that is an example of this? - ANS-the presence
of an abnormal number of chromosomes in a cell
Klinefelter Syndrome
What is a robertsonian translocation? - ANS-the most common form of chromosomal
rearrangement where the participating chromosomes break at their centromeres and
the long arms fuse to form a single, large chromosome with a single centromere
What is the difference between paracentric and pericentric inversions? -
ANS-Paracentric inversions do not include the centromere and both breaks occur in one
arm of the chromosome.
Pericentric inversions include the centromere and there is a break point in each arm
What are isochromosomes? - ANS-two identical arms joining together resulting in loss
of genetic material
What is a common place to see gene amplification? - ANS-Gene amplification often
seen in cancer cells where an oncogene is amplified hundreds of time --> higher
expression of oncogene
--> malignant transformation
Which type of mutations are heritable? Germline or somatic? - ANS-Germline mutation
• Mutation to the germinal cells (sperm / ovum).
• Germ line mutations can be passed down to the next generation.
• Can cause hereditary diseases.
,What is mosaicism? - ANS-some mutations may arise during early embryogenesis, in
which case tissues of the affected individual contain a mixture, or mosaic, of mutant and
nonmutant cells. Depending on the time of embryogenesis and cell type in which a new
mutation arises, an individual may carry the mutation in some but not all of their germ
cells (germline mosaicism), some but not all of their somatic cells (somatic mosaicism),
or both.
What is chimerism? - ANS-People that have two different sets of DNA are called human
chimeras
How often does a mutation cause a disease? - ANS-Overall frequency of disease
attributable to defect in a single gene (a.k.a Mendelian disorder) is ~1%.
-Most mutations are either asymtomatic or embryonic lethal
Why are medelian disorders so rare? - ANS-The rarity of Mendelian disorder could be
attribute to:
• Symptoms of some mutations are not apparent.
• Mutation is lethal during development.
• Mutations to several genes (multifactorial) are
required for phenotypic development.
• Mosaicism
What is the difference between autosomal and X-linked inheritance? - ANS-• Autosomal
can be recessive or dominant (Mendelian inheritance pattern)
• X-linked - mostly manifest in men because of hemizygosity
What is autosomal recessive inheritance? - ANS-• Autosomal
• Classical Mendelian inheritance.
• Only one allele is working.
• This often gives rise to 50% protein level.
• 50% protein level is typically enough for normal function.
• Need both alleles to manifest disease phenotype --> recessive inheritance.
What is autosomal dominant inheritance? - ANS-• If 50% protein level is not enough for
normal function -->dominance inheritance.
• Most are actually semidominant, where individual inherited with both loss-of-function
alleles manifest more severe phenotype.
• True dominant with loss-of-function mutation can occur when loss-of-heterozygosity
causes a different problem. For example: hereditary cancer syndromes such as Von
, Hippel Lindau (VHL) disease, Cowden syndrome, Hereditary leiomyomatosis and renal
cell cancer (HLRCC)
What is an example of an X-linked dominant disease? - ANS-fragile X syndrome
What is an example of an x-linked recessive disease? - ANS-hemophilia
What is an example of codominance? - ANS-Blood type
What is an example of a mitochondrial disease? - ANS-Leber hereditary optic
neuropathy
What is Leber hereditary optic neuropathy (LHON)? - ANS-mitochondrial disease
-CNS imaging studies may reveal abnormalities of the basal ganglia and corpus
striatum
• Lead to optic cell death and progressive vision loss.
• Incomplete penetrance: 50% of male and 85% of female never experience any vision
loss of related health problems.
• Affected individuals are typically homoplasmy, heteroplasmy individual will eventually
become homoplasmy
What is heteroplasmy vs. homoplasmy? - ANS-heteroplasmy: A cell can have some
mitochondria that have a mutation in the mtDNA and some that do not.
homoplasmy: a cell that has a uniform collection of mtDNA: either completely normal
mtDNA or completely mutant mtDNA
What is penetrance and incomplete penetrance? - ANS-Manifestation of disease
phenotype under a set of predefine criteria.
Incomplete penetrance of dominantly inherited diseases is one of the reasons why
deleterious allele persist in the population.
Same mutation can affect different tissues --> different phenotype -->variable
expressivity.
What is the genetic cause of Hereditary leiomyomatosis and renal cell cancer
(HLRCC)? - ANS-• FH gene encode fumarate hydratase, a TCA cycle enzyme.
• autosomal dominance
• Disease arise when the normal allele is lost (LOH - loss-of-heterozygocity).
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