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Lecture 3
Genotype, Cell Cycle & Inherited Diseases
48
Veterinary Medicine
Not Applicable
01/20/2017

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Cards

Term
What is the difference between signs & symptoms?
Definition
Signs - something someone else other than the affected animal can detect

Symptom - things that the affected individual experiences
Term
What are some important considerations when determining if a disease is inherited?
Definition
Clinical history (family members affected, how closely related)
Term
If both parents are affected with a heritable disease, and they have normal offspring, is the mutation autosomal dominant or autosomal recessive?
Definition
Must be dominant
Term
What is genetic counseling?
Definition
Assessing the client's family history, their concerns and their own genetic risks and conveying this information to the client, along with support services that are available to them.
Term
How are autosomes named?
Definition
They are numbered from shortest to longest
Term
What is the normal cell cycle?
Definition
G0 - cell doing its regular thing
G1 - cell grows, contents are duplicated
S - Sister chromatids are formed
G2 - proofreading & corrections
Mitosis - nucleus divides
Cytokinesis - cytoplasm divides
Term
What are the phases of mitosis?
Definition
IPPMAT

Interphase
Prophase
Prometaphase
Metaphase
Anaphase
Telophase
Term
How do chemotherapy drugs work?
Definition
They target various stages in the cycle of an overactive cell.
-inhibit cell growth
-inhibit DNA duplication
-inhibit cell division
Term
Do germ cells divide by mitosis or meiosis?
Definition
meiosis
Term
What is linkage?
Definition
the probability of loci being passed between homologous chromatids together. Directly related to the distance between two loci on the same chromosome
Term
When does homologous recombination occur?
Definition
Prometaphase 1
Term
Products of mitosis are (haploid/diploid) while products of meiosis are (haploid/diploid).
Definition
diploid
haploid
Term
Primary spermatocytes/oocytes will be (n / 2n)
Definition
2n
Term
Spermatogonia are (n / 2n)
Definition
2n
Term
Secondary spermatocytes/oocytes will be (n / 2n)
Definition
n
Term
What is a polar body?
Definition
non-functional remnant of a daughter cell produced during meiosis
Term
What are some ways you can assess embryo health before implantation in the uterus?
Definition
Examine polar bodies
-identifies gene defects from the mother
-can ID autosomal dominant disease from the mother's side, and X-linked disorders

Biopsy of embryo
-examines genotype of the actual individual
Term
If a mitochondrial genetic defect is present, would this be associated with the mother or the father?
Definition
mother
Term
What is monogenic mode of inheritance?
Definition
-disease passed from parent to offspring in a 'Mendelian' fashion, with distinct patterns of inheritance
-includes autosomal & x-linked disease
Term
What is mitochondrial inheritance?
Definition
-genetic information passed to offspring strictly from mother's mitochondria
Term
What are the modes of inheritance?
Definition
Monogenic
Polygenic (multifactorial)
Mitochondrial
Term
What is the law of segregation?
Definition
Alleles from the same loci will separate into separate germ cells
Term
When do homologous chromosomes separate?
Definition
Meiosis I
Term
When do sister chromatids separate?
Definition
Meiosis II
Term
What is the law of independent assortment?
Definition
Segregation at loci are each independent events
Term
True or False

Autosomal dominant traits never skip generations
Definition
True
Term
The average risk of offspring being affected by autosomal recessive traits is ____
Definition
25%
Term
Inhibitors of DNA duplication would target what phase of the cell cycle of a cancerous cell?
Definition
S
Term
Inhibitors of cell division would target what phase of the cell cycle of a cancerous cell?
Definition
Cytokinesis, mitosis
Term
Inhibitors of cell growth would target what phase of the cell cycle of a cancerous cell?
Definition
G1
Term
Mitosis produces how many daughter nuclei?
Definition
2
Term
Meiosis produces how many daughter nuclei?
Definition
4
Term
What can be ruled out if you look at a pedigree and see a trait is skipping generations?
Definition
not dominant
Term
What can be ruled out if two affected parents have normal offspring?
Definition
not autosomal recessive (could be x-linked recessive)
Term
What can be ruled out if an affected male has a normal daughter?
Definition
not x-linked dominant
Term
What can be deduced if a disease affects males more than females?
Definition
likely x-linked
Term
True or False

All genetic conditions are hereditary
Definition
False. Can be due to random mutation
Term
What is internal regulation of the cell cycle? Give some examples
Definition
regulation that ensures daughter cells are precise copies of their parent

e.g. increase in cell size
Term
What is external regulation of the cell cycle? Give some examples
Definition
factors that trigger a cell to enter/exit the phase of cell division

e.g. hormone stimulation, death of a nearby cell
Term
True or False

Larger cells are less efficient than smaller ones
Definition
true!

(this can trigger a cell to begin mitosis)
Term
The G1 checkpoint ensures...
Definition
integrity of DNA
Term
The G2 checkpoint ensures....
Definition
chromosomes have duplicated properly
Term
The M checkpoint ensures...
Definition
spindle fibers are properly attached to kinetochores to ensure daughter cells separate normally
Term
What are cyclin-dependent kinases? What is their role?
Definition
Enzymes which phosphorylate other proteins to activate them.

-this process is triggered by the binding of cyclins to Cdks
Term
______ concentrations fluctuate within a cell, while ______ concentrations remain relatively constant

(cyclin / Cdks)
Definition
cyclin fluctuates

Cdks remain constant
Term
What are the two main negative cell regulators? What do they do?
Definition
RB (binds to transcription factors such as E2F in response to changes in cell size, halting transcription)

p53 & p21 (halt division at G1 in response to DNA damage, allow division to proceed when damage is repaired)
Term
What is the difference between genetic vs hereditary?
Definition
"genetic" simple means that a trait is influenced at some level by the genetic makeup of the individual. Almost everything is genetically influenced in some way!

whether a trait is inherited is an entirely different story, and depends on using pedigree charts, molecular techniques etc
Term
In what order do cyclin proteins begin to be expressed?
Definition
Dad Eats A Bagel (DEAB)

D - start in G1, peak in S, end in mitosis
E - peaks at start of S
A - starts in G1 peaks in G2
B - starts at S, peaks at start of mitosis
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