QUIZ 1 Flashcards

1
Q

4 things that can predispose or cause a disease

A
  • presence of a gene
  • traits that turn genes on/off
  • gene - gene interactions
  • gene - environment interactions
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2
Q

DNA consists of…

A

A, C, G, T

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3
Q

DNA in humans is..

A

double stranded

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4
Q

Mutations on chromosome 14 change to

A

C-G or A-T

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5
Q

Some minor alleles can..

A

increase disease risk - Ex: breast cancer

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6
Q

Genetic variation only shows if it’s

A

Expressed
(transcribed to RNA/Protein)

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7
Q

Changes that determine gene expression

A

Epigenetics

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8
Q

Nucleosomes

A

Repeating units of chromatin - made of 146 base pairs of DNA wrapped around Histone

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9
Q

Histone

A

Positively charged proteins - structural scaffolds for DNA packaging: H2A, H2B, H3, H4

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10
Q

Histone Acetyltransferase (HAT)

A

enzymes that add acetyl groups to histone proteins, loosen chromatin - allow gene expression
- reversible modification, balanced by HDAC > uncoiling and transcription

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11
Q

Histone Deacetylase (HDAC)

A

enzymes that remove acetyl group from histone > condensed/ closed structure of chromatin and less transcription

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12
Q

Euchromatin

A

less dense transcriptionally active DNA - open arms

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13
Q

Heterochromatin

A

Densely packaged transcriptionally inactive DNA - hibernating > gene repression

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14
Q

Methylation

A

Addition of methyl groups to DNA or Histone tails - often altering chromatin structure + reducing gene expression > occurs in cytosine rich sequences called CpG sites

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15
Q

Gene silencing

A

HDAC and Methylation combine. Permanent method of down - regulating transcription of genes
- turn off gene so it can’t produce product - often through chromatin or RNA interference

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16
Q

Genetic changes interact..

A

with each other

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17
Q

Chronic Conditions - common complex diseases..

A

symptoms arise due to variety of factors - ex: Asthma

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18
Q

Gene - Gene interaction

A

Epistasis
- effect of one gene influenced, modified, masked by other genes

19
Q

Gene - Environment interaction

A

genetic backgrounds differ in different environments - ex: air pollution can affect asthma

20
Q

Race is a social construct.. NOT

A

biological

21
Q

CRISPR

A

technology able to cut specific genes

22
Q

How does genomics have increasing role in public health?

A

disease prevention and health promotion

23
Q

why is a “tiered” system for genomic test and individual health important?

A

make sure it’s used when most important and necessary

24
Q

how genomics is creating change and improvement

A

familial hypercholesterolemia - “fix”it - prevent from passing down

25
what would you study about genomics and why?
diabetes - underlying factor for many other things, something that feels like you could fix
26
Tier 1 Evidence for Recommendation
Supported by a base of synthesized evidence for implementation in practice
27
Tier 1 Examples
HBOC, Lynch syndrome, FH, Newborn screening
28
Tier 2 Recommendation
Synthesized evidence is insufficient to support routine implementation in practice, may provide information for decision making
29
Tier 2 Examples
Many pharmacogenomic tests
30
Tier 3 Recommendation
Evidence based recommendation against use; or irrelevant synthesized evidence identified; not ready for routine implementation in practice
31
Tier 3 Examples
Direct - to - Consumer personal genetic tests
32
A,C,T and G are __ that make up DNA base pairs
nucleotides
33
what a gene is transcribed into RNA/Protein, we refer to that gene as __
expression
34
if a specific genetic polymorphism seems to only occur in indigenous people from west coast of Canada, this would be an example of __
minor allele
35
nucleosomes consist of __
histones and chromatin
36
epistles can occur through the interactions of __
- DNA from one gene and RNA from another gene - Proteins from one gene and proteins from another gene - RNA from one gene and proteins from another gene
37
Technology derived from bacteria that is rapidly advancing genomic therapy research is called __
CRISPR
38
The type of modification that results in gene silencing is
methylation
39
the protein responsible for the DNA modification that results in heterochromatic unraveling from histones is called __
HAT
40
describe single nucleotide polymorphisms and how they can influence disease risk
when they switch from A-TA to C-G but the rest stay the same. normally doesn't affect much but sometimes can be minor allele and can increase risk of disease
41
why is tiered system important for genetic tests that provide patients information about their individual heath
so they know when to consider genetic testing compared to others and research, and when to not
42
what is meant by common, complex disease - example of one
there are a lot of varying factors that contribute to the disease . Ex. diabetes
43
what is an ethical issue you could see arise from CRISP and how it could be managed
cutting out genes could cause other issues in other genes. manage by having sufficient testing and making patient aware of the risks
44
what ways is genetics likely to become more fully incorporated into the field of public health
disease prevention, especially in diseases such as FH where it is passed down and you could prevent it from going to next generation