Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

PHRM 501 > Exam 2- Genetics > Flashcards

Exam 2- Genetics Flashcards

1
Q

Nucelosides

A
  • contain a nitrogenous base and 5-carbon carbohydrate group (a sugar either ribose or deoxyribose)
  • linked together through glycosidic linkage
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Nucleotide

A
  • nucleoside with a phosphate group
  • phosphodiester bond makes strands
  • Ex: Guanylic acid (GMP), Cytidylic acid (CMP), Adenylic acid which means Adenosine monophosphate(AMP)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Which bonds are stronger?

A

GC bonds are stronger than AT because there are three hydrogen bonds holding them together

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Histones are also called

A

nucleosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Chromatin

A

Nucleosomes organized in a coiled and supercoiled structure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

DNA is wrapped around

A

core histones (nucleosomes)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What happens at the M phase of cell cycle

A
  • chromatin is segregated as thread-like structures (chromosomes)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

DNA -> RNA

A

Transcriptions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

RNA -> Proteins

A

Translation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Gene

A

functional genetic unit that is transcribed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Characteristics of genes

A
  • 30,000 genes can code for 20,000 proteins
  • one gene can code for multiple proteins
  • Introns are spliced out
  • DNA is read in the 5’ to 3’
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Mutations

A
  • alteration in DNA sequence

- they occur during DNA replication which is rare and upon DNA damage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Types of mutation

A
  • Synonymous (neutral)
  • Non-synonymous (causative)
  • Point mutation
  • Insertion
  • Deletion
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Point mutation

A
  • change of a single nucleotide

Ex: ATGTTT to ATGTAT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Insertion mutation

A

Insertion of a nucleotide

Ex: ATGTTT to ATGTTAT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Deletion mutation

A
  • Deleting a nucleotide or base pair

Ex: ATGTTT to ATTTT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Synonymous mutation

A
  • Leads to no change
  • Ex: The base codes for the same amino acid
  • If nucleotide is changed and the amino acid is the same so there is no overall change
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Types of Non-synonymous mutation

A
  • Missense
  • Nonsense
  • Frameshift
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Missense

A
  • Amino acid change

- Nucleotide changes and it codes for a different amino acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Nonsense

A
  • early truncation of protein
  • Protein normally 200 amino acids will give you 50 amino acids
  • Early stop codon
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Frameshift

A

out of frame mutation

- this can happen by deletion or insertion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

SNPs

A

single nucleotide polymorphisms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Indels

A

insertions or deletions of one or few nucleotides

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

CNVs

A

copy number variations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

De novo mutation

A
  • a mutation that is not in either of the patients parents
  • a spontaneous or new change at a specific genetic locus (point)
  • caused by: replication erros, misalignments, exposure to mutagens (chemicals, UV)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Homozygous

A

two copies (mom vs. dad) are the same at any point in the sequence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Heterozygous

A
  • two copies (mom vs. dad) are different at any point in the sequence
28
Q

Inherited mutation

A
  • a germline mutation do novo mutation that has been passed to offspring through 1 or more generations
  • less severe than de novo
  • late onset severe mutations
  • individual must be fertile and survive to reproductive years to pass on mutation
29
Q

Wild type

A

common and functional gene version

- aka reference allele

30
Q

Genetic polymorphism

A

deviations = polymorphic or mutant variants

31
Q

Loss/ Gain or function

A

decreased or increased activity of the affected protein

32
Q

Genetic diversity

A

1 SNP per 1,000 base pairs, or >3 million per genome
AGGTCAGT. (first allele)
AGGTCGGT ( second allele)
SNP is A>G

33
Q

CYP2D6 Polymorphism

A
  • metabolizes codeine (weak analgesic) to morphine (strong analgesic)
  • we have more than 20 different CYP2D6 alleles
  • can be either a poor, normal or ultra-rapid metabolizer
34
Q

Germline mutation

A
  • mutation from parent that is passed to offspring
35
Q

Somatic mutations

A
  • only affects cell of mutation and all downstream lineage ( important in cancer)
  • occurs on somatic cells like muscle, skin and neuron cells
36
Q

Genetic diseases

A
  • A disease cause by a deleterious single change or some combination of multiple changes in an organisms genetic makeup
37
Q

Monogenic disorder

A
  • single gene
  • mutation in one gene causes diseases
  • mutations affect on single gene is large
38
Q

Polygenic disorders

A
  • multifactorial or complex
  • 2 or more genes (+ environment) causes diseases
  • each gene effect is small
39
Q

Genotype

A

Genetic makeup of an organism

- set of genes it carries

40
Q

Phenotype

A

Observable characteristics of the organism
- influenced by genotype and the environment
Ex: hair color, eye color

41
Q

Autosomal Dominant

A

Only one copy of mutant allele required for phenotype/disease
- usually gain of function mutant

42
Q

Autosomal Recessive

A

Both alleles must be mutated for phenotype/disease

- typically loss of function mutant

43
Q

X-Linked Recessive

A
  • Non-dominant mutation on X-chromosome, disease predominantly in males because they only have 1 X
  • Males have maternal copy. Females are carriers of mutation
44
Q

X-Linked Dominant

A
  • Mutation on Y chromosome, parental inheritance only

- Very few genes on Y, most genes on Y affect fertility (poor inheritance)

45
Q

What is BRCA 1/2?

A

They are tumor suppressor genes

- mutations cause tendency to suffer from breast/ovarian cancer

46
Q

Pharmacogenomics

A

study of how a persons unique genetic makeup (genome) influences his or her response to medications
- Multiple genetic variants across populations

47
Q

F508del

A

the deletion of a phenylalanine at residue 508 which leads to the gene, CFTR, misfolding resulting in disease Cystic fibrosis

48
Q

Recessive Genetic diseases

A

Loss of function (LOF)

-Therapeutic- Put back what is missing

49
Q

Dominant Genetic diseases

A

Gain of Function (GOF)

Therapeutic- mitigate toxic protein problem

50
Q

Recessive Treatment approaches

A
  • Activate alternative pathways ex: sickle cell anemia
  • Replace protein therapy ex: Hunter syndrome iduronase 2-sulfatase (IDS)
  • Gene therapy ex: inherited retinal disease
51
Q

Dominant Treatment approaches

A
  • Get rid of toxic effect ex: Familial hypercholesterolemia ( gets rid of excess cholesterol)
  • Antagonize it’s function ex: Familial hypercholesterolemia
  • Gene silencing ex: ATR amloidosis (Patisiran RNAi therapy)
52
Q

Pharmacogenetics

A

single gene mutation affecting drug responsiveness in a single patient

53
Q

Phase 1 polymorphisms

A

Both GOF and LOF

  • Many CYP enxymes
  • can be poor metabolizers (PM)
  • can be ultrarapid metabolizers (URM)
  • can be extensive metabolizers (EM) -middle
54
Q

Phase 2 polymorphisms

A
  • Mostly LOF
  • can be slower enzyme reactions
  • can be deficient in enzyme
  • the role of testing in drug efficacy and safety
  • may be important in determining extreme cases of toxicity, activation, or drug efficacy
55
Q

TPMT is

A

an enzyme that breaks down a class of drugs called thiopurines. They suppress the immune system and are used to treat various immune related conditions or blood disorders

56
Q

Activate alternative pathways is when

A

you use another pathway to make whats missing

  • part of recessive gene. treatment
  • Ex: sickle cell anemia (HBB mut)
57
Q

Replace protein therapy is when

A

you use complex drugs then you infuse the patient with the protein that they’re missing
- part of recessive gene treatment
Ex: Hunter syndrome iduronase-2-sulfatase (IDS)

58
Q

Gene therapy is when

A

using a vector, go into the DNA and place the gene in there

  • cant be done for every gene because some genes are too large and it’s hard to place them into DNA
  • part of recessive gene treatment
  • Inherited retinal diseases (RPE65 mut)
59
Q

Get rid of toxic effect is

A

getting rid of whatever excess of the gene is being made

  • part of dominant gene treatment
  • Familial hypercholesterolemia (cholestyramine get rid of excess cholesterol)
60
Q

Antagonize its function

A

-a certain product is causing an issue. An antibody can be designed to neutralize the protein (attach to protein and make it stop working)
-part of dominant gene treatment
Ex: Familial hypercholesterolemia (monoclonal antibodies anti-PCSK9)

61
Q

Gene silencing is

A
  • when you can silence the gene so it stops making the bad protein
  • part of dominant gene treatment
    Ex: ATTR amyloidoses (Patisiran RNAi therapy)
62
Q

What is 6-MP

A

a gene that is a very effective anti-leukemia agent in many combination protocols

  • extensively metabolized by TPMT
  • can lead to severe bone marrow suppression
63
Q

Ethical issues

A
  • genetic information is sensitive
64
Q

OMIM:

A

how many genes does a disease affect

65
Q

Blast

A

match sequence across genomes, compare species

66
Q

CPIC:

A

FDA recommended gene tests

67
Q

Web.Expasy

A

nucleotide sequence to protein sequence

PHRM 501 (21 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions