Enter Title

Gene and Genetics

100

What is aneuploidy? Give an example 

Presence of, or the absence of one or more chromosomes

200

Give an example of autosomal aneuploidy and list 3 signs/symptoms. What are the risk factors for it? 

Down syndrome, pregnancy in older women usually over 35 are high risk 

epicanthic folds, slanted eyes, flat facial profile 

malformed ears, big protruding wrinkled tongue

intestinal malformations, congenital heart disease

short broad hands with simian crease

300

What is a syndrome that stems from chromosome breakage? 

Cri du chat syndrome “cry of the cat” deletion of short arm of chromosome 5 

low birth wright, severe intellectual disability, and microcephaly 

400

Give the definition to the following: recurrence risk, penetrants, incomplete penetrants, and expressivity

recurrence risk: the probability that an individual will develop a genetic disease

Penetrance: percentage of individuals with a specific genotype who also epress the expected phenotype (Prob. Gene/trace being expressed)

incomplete penetrate: who has a gene for disease but does not express disease 

Expressivity: extend of variation in phenotype associated with a genotype (phenotypic expression)

500

Turner syndrome vs klinefelter syyndrome 

Dundundun…. 

Cancer

100

List 3 clinical manifestations of cancer 

pain, fatigue, cachexia (weight loss), anemia, leukopenia, infection, har and skin, solid lump, change in bowel or bladder habits 

200

What is anaplasia? What is well differentiation vs poor differentiation? 

Loss of mature or specialized features (structural differentiation) of a cell or tissue

Well: looks closer to original cellular structure. 

Poor: doesn’t resemble the cell, tends to indicate aggressive form 

300

Proto-oncogenes vs oncogenes & apoptosis genes 

Proto: normal cellular proliferation (RAS, Myc)

Onco (Oh No!): mutated and lead to uncontrolled cell growth 

apoptosis genes: BAX, Bci2

400

Define: prevalence, incidence and sensitivity 

Prevalence: percentage affected with a disease at a given time 

Incidence: measure the number of new cases in a specific time period 

Sensitivity: correctly identify those with a disease 

500

What is staging? How do the stages work? 

What is grading? How do the stages work? 

Staging= Spred (metastasis) 

I; no metastasis II; local invasion III; spread to regional structures IV; distant metastasis 

Grading= “grade”= pass/fail *well differentiated/poorly differentiated* 

I; well II; moderately III; poorly IV; anaplasia 

inflammation

100

What is inflammation? 

A nonspecific normal response 

200

List the exudative fluids and what they indicate 

Serous exudat: indicated early inflammation 

fibrinous exudate: indicate more advanced inflammation 

purulent exudate: indicate bacterial infection 

hemorrhagic exudate: indicated bleeding 

300

List the cardinal signs of inflammation 

explain what happens to get these signs 

heat, swelling, redness, pain, possible loss of function 

increased flow to the area (blood rushing to which is why it’s red), increased permeability, allows for plasma to enter area and cause swelling. Bradykinin and prostaglandins cause pain 

400

List the e R’s of wound healing. 

Secondary intention vs primary intention? 

Regeneration: restoration after damage 

resolution: restoring to original structure 

repair: replacement with scar tissue 

1: minimal loss 2: more tissue replacement 

500

List the wound healing phases and what goes on in each 

Too long to write, were they right? 

Altered cell

100

explain necrosis vs apoptosis 

which one doesn’t have inflammation? 

Necrosis: unplanned cell death, does have inflammation 

apoptosis: programmed cell death, inflammation 

200

Hypoxia vs ischemia

what is ischemia repercussion injury? 

Hypoxia: state of reduced oxygen within the tissue 

ischemia: insufficient blood flow o the tissue 

- additional injury that can be caused by restoration of blood flow and oxygen, free radicals are introduced. 

300

List the 5 cellular adaptions, give an example for each. 

Atrophy, hypertrophy, hyperplasia, metaplasia, dysplasia 

400

List the 5 types of necrosis. Where are they most commonly seen? 

Coagulative: kidneys, heart, adrenals

liquefactive: CNS, spinal cord 

gangrenous: skin, GI tract 

caseous: lungs (TB)

fat: pancreas 

500

What are Bci and Bci-2 ?

Look at your notes, end of altered cell and in cancer 

Extras

100

List autosomal dominant inheritance diseases. List a fact about it 

Huntington‘s 

marfan’s syndrome 

neurofibromatosis (von recklinghausen disease) 

200

What is the P53 gene? 

What would happen if it was mutated? 

”guardian” detect and choreograph “damage control” most common tumor suppressor gene 

If it was mutated, it would lead to uncontrolled growth 

300

Define Warburg effect and angiogenesis

Warburg: use of glycolysis under normal oxygen conditions 

angiogenesis: growth of new vessels, vascular endothelial growth factor (VEGF) 

400

Define morbidity , mortality, and specificity 

Morbidity: having a disease of a symptom of disease 

mortality: number of deaths due to a disease 

specificity: identify those without the disease 

500

What system does the World Health Organization use to categorize cancer? Describe how staging works 

Tumor, Nodes, and Metastases (TNM)

T0-T3

N0-N2

M0-M2