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55 Cards in this Set

  • Front
  • Back
Sickle Cell Anemia
a)type of disease
b)follows a...
a)genetic, chronic and hemolytic disease
b)recessive trait, but both parents must be carriers of gene
Electrophoresis result of Haemoglobin S when compared to normal hemoglobin and meaning?
moves more slowly towards (+) anode than does normal hemoglobin; HbS is less (-) than normal hemoglobin
Sicle Cell Carriers results on gel electrophoresis?
2 bands b/c they have HbA and HbS
Sickle Cell Hemoglobin diff from regular hemoglobin (2) and who discovered it?
Valine where a Glutamate should be in the Beta chain; neutral AA for acidic AA

Vernon Igram
Problems with Sickle Hemoglobin? (2)
1)valine gives sticky patches on outside of each Beta chain
2)causes molecules of HbS to stack via H-bonds and distort the red cells
Sickle Shape leads to... (6)
1)rapid destruction of RBC's
2)shortage of breath
3)repeated infections
4)clumping of RBC's
5)enlarged heart/spleen
____ is the most common lethal inherited genetic disease in whites
cystic fibrosis
Parents have to be what to give their kid CF?
have to be carriers of the defective gene that causes CF
What happens in lung when you have CF?
cilia of lung unable to move mucus towards mouth
Clinical symptoms of CF (6)
1)progressive lung disease
2)chronic lung infections
3)GI obstruction
4)ineffective reproductive system
5)Lungs NORMAL @ birth
6)chronic cough
Type of lung infections in CF patients and what is special about one of em? (3)
3)pseudomonas aeroginosa (NOT TREATABLE WITH ABX)
Progressive lung disease in CF patients steps (3)
1)lungs normal @ birth
2)bronchial mucus block small airways and become inflamed
3)mucus stays in lungs and provides spot for bacterial infections which lead to lung damage
95% of CF patients die of...
respiratory failure
Pancreatic Insufficiency steps in a CF? (4)
1)mucus blocks pancreatic ducts
2)this blocks pancreatic enzymes from getting to SI
3)leads to malabsorption of nutrients
4)"failure to thrive"
GI obstruction in CF steps (3)
1)Meconiumileus (blockage of illium)
2)dark green substance that emerges as first stool becomes too thick and blocks intestine
3)requires surgery to remove obstruction
Effect of CF on male reproductive system
obstruction of genital tract makes vas deferens, epididymis, seminal vesicle atrophic/fibrotic
Effect of CF on female reproductive system
mucus plugs cervix which doesn't allow sperm to penetrate uterus
Sweat test of CF (or IF FAMILY MEMBER HAS CF)
a)how test is done
b)what looking for
a)put pilocarpine on skin and absorb sweat in piece of filter paper
b)measure amount of Na and Cl in sweat (CF patients have 4x more than normal)
Properties of protein that is product of defective CF gene? (1)
1)cAMP induced chloride channel
Name of gene responsible for CF? and fxn
cystic fibrosis transmembrane conductance regulator (CFTR)

chloride channel protein in membrane
MAIN mutation responsible for CF
deletion of Phe @ codon 508
What does the deletion of Phe 508 at do to CFTR? (3)
1)pivotal b/c Phe is hydrophobic
2)leads to conformation change in CFTR
3)so it is degraded in ribosomes
Effect on cell of not having CFTR?
Cl- remains in cell so more Na+ in cell to equalize cell b/c of the opposite charges
_____ increases the melting point of DNA
having more C-G pairs
Nucleotides in DNA are linked by....
phosphodiesters bonds
Purines (2)
A and G
Pyrimidines (3)
Nucleotide consists of.... (3)
Bonds in a nucleotide (2)
n-glycoside bond links base and pentose sugar

phosphoester bond links phosphate and pentose sugar
Basic mechanism of recombinant DNA technology
transfer of DNA from one organism to another
Step 1 of rDNA (2)
1)DNA from donor is cut out via restriction endonuclease
2)joined via ligases to recipient DNA to form recombinant DNA
Step 2 of rDNA (2)
1)recombinant DNA transferred to a host
2)intro of rDNA to bacterial host plasmid is called transformation
Step 3 of rDNA (2)
1)host cell are identified and selected
2)selected hosts are then mass cultured by fermentation methods
Step 4 of rDNA (1)
If reqd, a DNA construct can be prepared to ensure that the protein product that is encoded by the cloned DNA sequence is produced by the host
Step 5/6 of rDNA (2 total)
1)isolate, purify and modify protein drug
2)formulate product, study stability, and establish optimal delivery method
Hybridization based technologies (5)
2)southern blot
3)northern blot
5)siRNA (RNA silencing)
Tm def. and is directly related to...
temp. that causes DNA to separate by 50%

composition of DNA sequence
Decent formula for determining Tm
2(# of A-T pairs) + 4(# of G-C pairs)
DNA and DNA-RNA hybrids are destabilized by....(4)
1)decr salts concentrations
2)incr detergent concentrations
3)incr temperatures
4)sequence mismatches
Then why use a 20 base primer for PCR?
increases specificity and gives it a higher Tm than if using a smaller primer
Type of DNA polymerase used in PCR and why?
Taq DNA Polymerase b/c it is thermally stable
Steps in PCR (5)
1)Heat @ 94C to separate strands
2)Add synthetic primers and cool to 45-60C
3)Add thermostable DNA polymerase to catalyze 5'->3' DNA synthesis @ 72C
4)keep repeating these steps
5)72C for 5 minutes for completion of parital products
# of copies of amplified DNA in PCR can be determined by this equation....

N= # of cycles
y=starting # of DNA templates
Southern Blot
b)who invented it
a)detect presence of a specific sequence
b)"labeled" probe to detect target sequence
b1)probe can either be labeled radioactively or chemically
c)Dr. EM Southern
Gel electrophoresis def.
movement of an electrically charged substance under the influence of an electric field
Gel electrophoresis steps for DNA (4)
1)restriction enzymes cleave DNA into smaller pieces
2)DNA loaded into wells in a porous gel in a buffer solution
3)electric current activated and DNA moves towards (+) cathode
4)smaller DNA frags move faster and v.v.
Northern blot difference from Southern blot (4)
2)RNA is not enzymatically digested
3)gel used to separated RNA molecules has denaturing agents in it so that post-treatment of gel is unnecessary
4)No Dr. Northern
b)what is a microarray
a)hybridization analysis of mRNA (or DNA) on a genome-wide scale
b)membrane, glass slide or "chip" containing probes for every gene predicted in a genome
c)reverses the hybridization - put the probes on the filter and label the total RNA
____ does photolithograph
Sample isolation and labeling for Microarray (2)
1)mRNA is isolated and converted to cDNA via reverse transcriptase
2)cDNA is then fluorescently labeled to allow detection on the array
Microarray Applications (5)
1)genome wide transcriptional profiling
2)comparison of mRNA from different tissues
3)comparison of normal and disease states
4)drug or environmental response studies
5)"low-level" genome sequencing
Genetic source material for PCR
Genetic source material for DNA Sequencing
Genetic source material for Nucleic Acid Hydridization (north/south blots)
cDNA NOT usually used but can be
Genetic source material for Microarray (and name of analysis when diff material is used)
DNA (genomic analysis)
cDNA (transcriptional analysis)