final

Question 1

missense

Answer 1

one amino acid is replaced by another

Question 2

nonsense

Answer 2

premature translation termination

Question 3

synonymous

Answer 3

a codon change in which the new codon codes for the same amino acid

Question 4

gain of function

Answer 4

gene assumes new function mutation

Question 5

loss of function

Answer 5

gene knockout

Question 6

forward mutation

Answer 6

wild type to mutant
rate about 10^-6
higher mutation rate than reverse mutation about three orders of mag higher

Question 7

reverse mutation

Answer 7

mutant to wild type

Question 8

transitions

Answer 8

substitution
purine for purine
pyrimidine for pyrimidine

Question 9

transversion

Answer 9

substitution
purine for pyrimidine
pyrimidine for purine

Question 10

tautomeric shift

Answer 10

causes G base to become G*
in which T pairs with the G*
as G* reverts to G there is a mismatch (missense)
which if not corrected results in a A-T base pair instead of G-C in the next round of replication

Question 11

indels

Answer 11

addition or deletions of a nucleotide

Question 12

natural purifying selection

Answer 12

prevents the DNA to become AT rich due to deamination of C

Question 13

frame shift mutation

Answer 13

caused by flat molecules like proflavin and benzopyrene slip between bases and cause additions or deletions of nucleotides during replications

Question 14

cDNA

Answer 14

complementary DNA to mRNA

Question 15

transcriptome

Answer 15

a complete set of transcripts present in a specific cell or tissue

Question 16

Expressed sequence tags (ESTs)

Answer 16

are single pass reads of cDNAs

ex. brain ESTs indicate which genes function during brain development

Question 17

annealing

Answer 17

recombining DNA in the double-stranded form following separation by heat

Question 18

dideoxynucleotides

Answer 18

3’OH of the nucleotide is hydrated leaving it with only H

since no 3’ OH is available to be connected to DNA synthesis stops at that nucleotide DNA polymerase cannot continue

Question 19

PCR Polymerase chain reaction steps

Answer 19

amplification of a specific nucleotide sequence

1) denature double stranded DNA into single strands
2) anneal primers at a temperature that depends on GC 9content Usually 54 - 64 degrees C
3) extend the 3’ OH of each primer with Taq DNA poly at 72 degrees C

Question 20

NGS

Answer 20

massively parallel DNA sequencing technology. Hundreds of DNA fragments are being sequenced in parallel.

Question 21

Sanger sequencing

Answer 21

copys a single strand DNA complementary to the template strand then dideoxynucleotides are added in synthesizing the other strand different lengths are produced with a dideoxynucleotide end
when these fragment strands pass through a capillary electrophoresis the base is detected with a laser and a light shines different colors for each nucleotide
the length and colors help sequence the order and bases of the template strand

Question 22

pseudogenes

Answer 22

a degraded, nonfunctional gene

Question 23

synteny

Answer 23

is the preservation of gene content in a chromosome during evolutionary divergence