Exam 1 lec 2-4

Question 1

Purines consist of __ rings and are the letters

Answer 1

two
A,G

Question 2

Pyrimidines consist of __ rings and are the letters

Answer 2

one
C, T

Question 3

A and T consist of __ bonds

Answer 3

two

Question 4

C and G consist of __ bonds

Answer 4

three

Question 5

The 5’ end consists of the ___

Answer 5

phosphate

Question 6

the 3’ end consists of the __

Answer 6

alcohol

Question 7

Humans have between ____ to ____ genes

Answer 7

20k to 25k

Question 8

The p arm is the ____ chromosome

Answer 8

shortest part of

Question 9

the q arm is the ___ chromosome

Answer 9

longest part of

Question 10

a proteome is

Answer 10

the entire set of proteins expressed by the
genome

Question 11

alternative splicing is

Answer 11

the mechanism that modifies pre-
mRNA prior to translation. This process can produce a
diversity of mRNAs from a single gene by arranging coding
sequences differently

Question 12

the trancriptome is

Answer 12

all of the RNA transcripts produced by
an organism

Question 13

Where is your genome located?

Answer 13

In the nucleus of every cell in
your body, except erythrocytes

Question 14

__% of the human genome is non coding

Answer 14

97

Question 15

a missense mutation is

Answer 15

when a different amino acid forms

Question 16

a nonsense mutation is

Answer 16

when a stop codon is formed

Question 17

a Single Nucleotide Polymorphism (SNP) is

Answer 17

when a single nucleotide (A,C,G,T) is altered
in at least 1% of the population. Sometimes
called Single Nucleotide Variant (SNV).
ex. lactose tolerance

Question 18

a Microsatellite (1-7 bp in length)

Answer 18

a short segment of DNA, 1 to 6
or more base pairs in length, that is repeated
multiple times.

Question 19

a Minisatellite (9-80 pb in length)

Answer 19

a short segment of DNA, 9 to 80
or more base pairs in length, that is repeated
multiple times.

Question 20

poylorphism is

Answer 20

the inheritance of a trait
controlled by a single genetic locus with two
alleles, (the least common allele has a frequency
of about 1% or greater.)

Question 21

one example of a disease causing microsatellite is

Answer 21

huntington’s disease

Question 22

TorF Mutations do not occur at the same rate everywhere in the
genome

Answer 22

true

Question 23

Transitions (__to__) occur more often than Transversions
(___to__).

Answer 23

Transitions (purine to purine, pyrimidine to
pyrimidine) occur more often than Transversions
(purine to pyrimidine).

Question 24

CpG islands experience more mutations and can be defined as ___
they accumulate more in ___ than ___

Answer 24

cytosine-phosphate-guanine on single strand

Accumulate more in introns than exons

Question 25

a haplotype is

Answer 25

a physical grouping of
genomic variants (or polymorphisms) that
tend to be inherited together.

Question 26

linkage disequilibrium is

Answer 26

tendency of certain alleles at neighboring loci to be co-inherited because of reduced combination
between them.

SNPs located closer together on
chromosome more likely to be inherited together

Question 27

halotypes are used in

Answer 27

population
genetics and tracking disease variants
in populations.

Question 28

The HapMap project is

Answer 28

a resource that researchers can
use to discover gene variants involved
in disease and individual responses to
therapeutic agents

Limitation – not useful in capturing rare
variants which may cause disease

Question 29

only __% of the human genome codes for proteins

Answer 29

1.5%

Question 30

compare a LINE to a SINE

Answer 30

LINE long interspersed nuclear element
SINE short interspersed nuclear element

Question 31

describe the process of polymerase chain reaction (PCS)

Answer 31

denaturation, anneal, extension
Denaturation (90o)- break DNA into single
strands
– Anneal – attach primer
– Extension (72 to 75°C) – polymerize
20-30 cycles = produces millions of
copies
– Amplicons

Question 32

what is sanger sequencing?

Answer 32

after PCR
800-1000 base pair reads (long)
* Low error rate
* High cost per base
Fluorescent chain-terminating ddNTPs
* Capillary gel electrophoresis – separate by size
* Laser excitation and chromatogram outpu

Question 33

what is next generation sequencing?

Answer 33

Massively parallel – many fragments at once

Enzyme incorporates nucleotides
* Several million clusters generated
Determine bases – fluorescent labels
Highly parallel
* Microscale
* Fast
* Low cost
* Shorter read length (50 bp)
* More intense post-sequencing data analysis
* Data storage costly

Question 34

1-100 mg of genomic DNA in PCR is used for

Answer 34

template for synthesis

Question 35

1 uM oligonucleotide primers in PCR are used for

Answer 35

priming synthesis of specific target DNA

Question 36

4 x dNTPs @ o.2mM in PCR are used

Answer 36

as building blocks of synthesized DNA

Question 37

Tag DNA polymerase in PCS is used

Answer 37

as a thermostable enzyme for DNA synthesis

Question 38

Mg2+ @ 1.0-5.0mM in PCR is used for

Answer 38

enzyme activity

Question 39

The pH 7.5-9.0 (ex ammonium sulfate_ and mild non-ionic detergent in PCR are used for

Answer 39

stable, enzyme friendly condition

Question 40

ddNTPS in sanger sequencing

Answer 40

dideoxynucleotide triphosphate

Question 41

NGS ___ the cost of DNA sequencing

Answer 41

decreased