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Principles > Genetics > Flashcards

Genetics Flashcards

1
Q

define the concept of precision medicine

A

give people the most effective treatment based on their genes as everyone is different

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2
Q

three ways DNA can be damaged?

A
  1. DNA strand breaks
  2. chemical crosslinking
  3. mismatched bases
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3
Q

which phase of the cell cycle does DNA replication happen?

A

S phase

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4
Q

four things that determine the amount of protein produced?

A
  1. rate of transcription
  2. rate of splicing of mRNA
  3. half life of mRNA
  4. rate of processing polypeptide
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5
Q

define polymorphism

A

variation in the human genome that has a population frequency of greater than 1% and in itself is not disease-causing.

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6
Q

define mutation

A

a gene change that causes a genetic disorder

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7
Q

three ways a chromosome can be recognised?

A
  1. banding pattern with specific stains
  2. length
  3. position of centromere
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8
Q

define acrocentric chromosome

A

short arm does not matter

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9
Q

describe balanced chromosome arrangement

A

all chromosomal material is present

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10
Q

describe unbalanced chromosome arrangement

A

extra or missing chromosome material

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11
Q

four chromosomal mutations

A
  1. aneuploidy- extra or missing chromosomes
  2. translocation- rearrangment of chromosomes
  3. insertions and deletion- missing or duplicated material
  4. micro deletions
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12
Q

define robertsonian translocation

A

two acrocentric chromosomes stuck end to end

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13
Q

molecular cytogenetics

A

detects small changes

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14
Q

array CGH

A

detects any size of imbalance but not balanced rearrangements

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15
Q

define mosaicism

A

different cells have different genetic constitution

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16
Q

define somatic mosaicism

A

two genetically distinct populations of cells derived from post zygotic mutations

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17
Q

Her2 amplification

A

monoclonal antibody- trastuzamab

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18
Q

philadelphia chromosome

A

tyrosine kinase inhibitor- imatinib

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19
Q

what does aCGH analyse for

A

deletions and duplications, but does not detect balanced arrangements

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20
Q

other methods that mutations can be detected?

A

PCR, next generation sequencing

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21
Q

what does a promoter mutation cause

A
  1. no, or reduced transcription

2. no, or reduced protein

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22
Q

define a missense mutation

A

single nucleotide change that results in a different amino acid

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23
Q

mutation nomenclature

A

c. is the effect on the mRNA

p. effect on peptide sequence

24
Q

three things you may see if there is a genetic change

A
  1. disease-causing mutation
  2. polymorphism
  3. variant of unknown significance
25
Q

define penetrance

A

likelihood of having a disease if you have a gene mutation

26
Q

define 100% penetrance

A

you will get the disease if you have the mutation

27
Q

define mendelian disorders

A

disease that segregate in families-caused by a change in a single gene.

28
Q

examples of mendelian inheritance

A
  1. autosomal dominant
  2. autosomal recessive
  3. X-linked
  4. mitochondrial
29
Q

define autosomal dominance

A

only need one gene to get the disease- passed through families

30
Q

define autosomal recessive

A

two copies of the abnormal gene required- passed on through families.

31
Q

define X-linked

A

mutation on the X chromosome causes disease

32
Q

define multifactorial inheritance

A

many factors are involved in causing the condition.

33
Q

cancer is a disease of?

A

somatic mosaicism caused by post-zygotic mutations

34
Q

characteristics of a successful cancer cell

A
  1. proliferation
  2. evading immune response
  3. acquiring a vascular supply
  4. avoiding apoptosis
  5. metastasis
35
Q

hall marks of cancer (6)

A
  • self-sufficiency in growth signals
  • insensitivity to anti-growth signals
  • tissue invasion and metastasis
  • limitless replicative potential
  • sustained angiogenesis
  • evading apoptosis
36
Q

four genes involved in cancer

A

oncogenes
tumour suppressors
DNA repair genes
drug metabolism (metabolise carcinogens)

37
Q

when cancer is sequenced there are two mutations that indicate cancer

A
  1. driver mutations

2. passenger mutations

38
Q

methylation

A

addition of a methyl group which usually occurs on cytosine bases just before guanine bases

39
Q

what does methylation cause

A

de-acetylation by modification of histones repressing transcription

40
Q

methylation causes the environment to effect our genes?

A

yes

41
Q

which mutation does methylation make more likely?

A

C to T

42
Q

why do tumours get so many mutations?

A

the cells have a high rate of mutability and there is a loss of DNA repair

43
Q

what determines the characteristics of cancer

A

driver mutations, not the tissue of origin

44
Q

explain the two hit hypothesis

A

first hit is inherited mutation

second hit is an acquired mutation. However both can be acquired mutations

45
Q

three mechanisms of gene activation

A
  1. duplication of a gene
  2. activation of the gene promoter
  3. change in amino acid sequence
46
Q

define philadelphia chromosome

A

abnormal small chromosome

47
Q

define caveat

A

female carrier who may have some mild features of an X-linked disease

48
Q

define X-inactivation

A

females only have one active X-chromosome

49
Q

define single nucleotide polymorphism

A

alteration in DNA sequence that is not in itself disease causing

50
Q

define copy number variations

A

extra or missing stretches of DNA

51
Q

non-mendelian inheritance disease examples

A
  1. methylation
  2. mitochondrial inheritance
  3. mosaicism
52
Q

define psychological capability

A

ability to engage in the necessary mental processes

53
Q

define physical capability

A

skill, strength or stamina

54
Q

define reflective motivation

A

planning and evaluation

55
Q

define automatic motivation

A

emotional reactions, desires, impulses, inhibitions, reflexes

56
Q

define physical opportunity

A

opportunity afforded by the environment (time, resources, physical activity)

57
Q

define social opportunity

A

opportunity afforded by social and culture norms

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