Genetics Exam 4 - Review Flashcards

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1
Q

Start codon

A

AUG

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2
Q

Kozak’s Rule

A

Eukaryotic binding region / sequence that helps with initiating translation

-6 to +4
-3 to +4

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3
Q

What is the secondary structure of proteins

A

Intramolecular hydrogen bonding and helix and binding peptide sheets (alpha helix and beta sheets)

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4
Q

16s subunit of the ribosome

A

subunit of ribosome that deletes the wrong tRNA

proofreading

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5
Q

Shuine-Dalgrano Sequence

A

For bacteria, facilitates the binding of mRNA to the ribosome

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6
Q

Describe the sites within the ribosome (APE)

A

Looks more like EPA
A - tRNA comes in
P - adding to polypeptide chain
E - exit

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7
Q

Describe translation

A

tRNA that is charged wtih an anti-codon comes in the A site binds to the anticodon and codon combine

A is approved

If approved, it is attached to the P polypetide chain

E will release it and almost immediately after it will begin to fold into secondary > tertiary > quarteria

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8
Q

DNA methylation

A

STOP

Increases compaction of DNA making it transcriptionally inactive by preventing gene expression

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9
Q

DNA Acetylation

A

GO

Decreases compaction of DNA making it more active transcriptionally increasing gene expression

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10
Q

Antisense RNA

A

Forms the double stranded RNA that PREVENTS TRANSLATION if its complimentary counterpart; physically unable to leave the riboosome

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11
Q

Constitutive

A

Continously producing a substance for constant level of expression (ON OR OFF)

Ex. Lac operon will consistently be repeated

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12
Q

Stem Loops 3-4

A

Turns off the trp operon

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13
Q

Stem loops 2-3

A

Turns on the trp operon

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14
Q

Promoters

A

Attract RNA polymerase to transcribe genes

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15
Q

Terminators

A

End transcription genes of remaining RNA polymerase

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16
Q

Operators

A

Control box of the operon is the site where the receptor binds

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17
Q

What makes up an operon

A

Other genes > Promoter > Operator > Genes to transcribe > Terminator

Lac operon binds to the repressor and removes it so that the polymerase can continue to transcribe genes

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18
Q

Explain the conditions that turn on the Lac Operon

A

Glucose is low and lactose is high

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19
Q

Explain what happens in the trp operon

A

Turns on the trp operon , there needs to be low tryptophan (co-repressor) for the operator, only turned on when needed

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20
Q

What does inducible mean

A

Usually has an inducer element, needs certain molecules to be induced

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21
Q

What causes negative feedback

A

Usually has a repressor element

A > B > C > D > FInal product
D can go back at the end and help to repress areas again (after A or B or C)

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22
Q

Activator

A

proteins that bind to enhancer regions

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23
Q

Repressors

A

Proteins that bind to silencers

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24
Q

Silencers

A

Where the repressors bind

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25
Q

Enhancers

A

Where the activators bind

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26
Q

Epigenetics

A

The study of mechanisms that lead to change in gene expression that can be passed from cell to cell and are reversible, but do not involve a change in the sequence of DNA (simply allowing expression or not)

27
Q

Genomic imprinting

A

Process of silencing genes through DNA methylation and is a form of epigenetic

28
Q

Chromatin remodeling complexes

A

Change nucleosome orientation usually ATP - dependent proteins

Require energy to recognize and restructure

29
Q

Euchromatin

A

Transcriptionally active DNA (open chromatin)

Not stained during interphase

30
Q

Heterochromatin

A

Transcriptionally inactive DNA (closed chromatin)

Stained during cell cycle

31
Q

Where does regulation of gene expression occur

A

It can be regulated in every single area

Transcription, Translational and in Proteins

32
Q

What is transcriptional regulation

A

Regulated the conversion of DNA to RNA

33
Q

What is the translation regulation

A

Regulation the conversion of RNA to proteins (ribosome to RNA)

34
Q

What is post-transcriptional regulation?

A

Regulation after transcription but after translation (5’ Cap Poly A Tail)

35
Q

What is post-translational regulation

A

Regulates protein products

36
Q

What are CpG islands

A

Cluster of C to G may be binding to epigenetics near the promoter region

37
Q

Explain histone modification? What happens when you methylate and acetylate histones

A

Methylate = Off
Acetylate = On

38
Q

Explain the levels of transcription you would likely see in heterochromatin and euchromatin

A

Heterochromatin: low and compact
Euchromatin: on and accessible

39
Q

Mutation

A

Refers to the heritable change in genetic material

40
Q

Silent Mutations

A

A mutation that does not alter the amino acid
CUU, CUC, CUA, CUG no matter what changes at the end, it will code the same amino acid and nothing changes or is detectable

41
Q

Missense mutations

A

A base substitution that leads to a change in the amino acid sequence in the polypeptide, severe impact but i can either be very beneficial or very bad

If AAC is turned to AAA it is now a different amino acid

Ex. sickle cell

42
Q

Nonsense mutation

A

A mutation that produces a stop codon
AUG| UAC > UAA so amino acid to stop codon

Ex. cystic fibrosis

43
Q

Frameshift mutations

A

A mutation that involves an addition or deletion of nucleotide, which shifts the reading frame

AUG CAG UUU CAG
AUG CAG GUU UCA G…

44
Q

Reverse mutation

A

A mutation that converts mutated allele to a normal allele

45
Q

Transition

A

Purine can replace a purine or a pyrimidine replaces a purine

Purine: A switches with G
Pyrimidine: T switches with C

46
Q

Transversion

A

Pyridine to Purine switching an A with a T

47
Q

What is the difference between deleterious mutations, beneficial mutations and conditional

A

Deletion: bad
Beneficial: Positive
Conditional: Temperature

48
Q

What is the common codon present in trinucleotide repeats?

A

CAG

49
Q

What are the two features of trinucleotide repeat expansions disorders

A

1) Anticipation: condition worsens over several generations
2) Severity depends on who you inherit it from (X linked recessive is common in males)

50
Q

What is the difference between depurination and deamination?

A

Depurination: removing the purine (A and G)
Deamination: Removing the pyridine (C and T)

51
Q

What are examples of environmental factors that can cause mutations

A

UV Rays
X Ray’s
Gamma Rays

52
Q

Proto-oncogene

A

Normal, non mutated gene with the potential to become an oncogene (cancer gene)

53
Q

Metastatic

A

Cancer moves to a different site in the body (From arm to foot)

54
Q

Malignant

A

Cancer that invades surrounding tissue (From breast tissue to surrounding tissue around it)

55
Q

Epigenetics

A

Associated with some cancers by changing gene expression

56
Q

Gene testing

A

Refers to the use of tests to discover if an individual has a genetic abnormality

57
Q

Genetic Screening

A

Refers to a population wide genomic testing

58
Q

How do tumor suppressors genes differ from oncogenes

A

STOP: Tumor suppressors gene inhibit cancer
P53 will stop cell division

GO: Oncogenes induce the growth
RAS regulated by GTP. When GTPase is low, it cannot remove GTP which means that GTP is constantly on therefore RAS is constantly on

59
Q

IN observing human diseases, many genetic disorders exhibit a specific ________ meaning the disease tends to develop at a characteristic age

A

Age of onset

60
Q

What is apoptosis and what are the mechanisms that facilitate it

A

Controlled cell death and causing inflammatory response

Capsases necessary for apoptsis allowing them to have controlled death

61
Q

Autosomal

A

Dominant: Occurs in all sexes equally AA or Aa (50%)

Recessive: occurs in both sexes (25%)

62
Q

Sex-Linked

A

Dominant: Lethal in XA XA or XA Xa

Occurs mostly in males: Xy

63
Q
A