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patient MCQ > Pharmacogenomics 1 > Flashcards

Pharmacogenomics 1 Flashcards

1
Q

cost of sequencing is ______

A

dropping

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2
Q

what is the human genome project

A

10 year international collaborative research programme

to complete mapping and understanding of all the genes of human beings

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3
Q

TF we have more geans than other mammals?

A

false, found only 20,000 genes which was lower than initial estimates

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4
Q

how many nucleotides?

A

3.2 billion

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5
Q

individuals are ____% identical

A

99.9

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6
Q

what is the NHS 100000 genomes project? who participates

A

set up in 2012 has 100,000 genomes from 85,000 people from tumour and normal cells
NHS patients with rare diseases and their families

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7
Q

what is the UK biobank?

A

private investment
cohort study with deep genetic and phenotypic data on 500,000 people in the UK aged 40-69
followed up overtime to see if theres changes with diagnoses

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8
Q

what is genetics? how does this differ to genomics

A

study of DNA

studies the genes not the junk, genomics covers everything

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9
Q

genotype codes for ____

A

phenotype

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10
Q

___ pairs of chromosomes +2____

A

22 pairs
2 sex chromosomes
= 23 pairs and 46 chromosomes

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11
Q

how are chromosomes ordered

A

by size normally

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12
Q

process of DNA to protein? simple

A

DNA replication, transcription, RNA replication, translation to amino acids

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13
Q

RNA is ____ compared to DNA. (stability)

A

unstable

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14
Q

what can reverse transcription?

A

viruses
retrotransponsons
telomere extension

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15
Q

_ons code for proteins

A

exons

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16
Q

where are introns spliced?

A

from RNA- are coded into RNA first them removed

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17
Q

____% of DNA is junk

A

95

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18
Q

a key role of junk DNA?

A

can bend to get different elements closer to where the gene is
can cause activatio of promotors, TF

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19
Q

why do we have mutations if theyre linked to risk?

A

need mutation for protection from environment e.g. antigenic shift in viruses

20
Q

whats copy number variation?

A

large chunks of DNA inserted, repeated or deleted

21
Q

what does synonymous mean

A

no change to AA sequence

22
Q

what is pharmacogenetics?

A

effects of genetic variation on drug response which can lead to altered therapeutic effect or an adverse effect

23
Q

common gene variant for AEDs

A

CYP450

24
Q

what can you sample to get dna

A

saliva, blood, cheek

25
Q

what can pharmacogenetics effect

A

PK- absorption, distribution, metabolism, excretion
PD- modified targets, sensitivity
toxicity

26
Q

4 types of metaboliser?

A

poor
intermediate
extensive
ultra rapid (29% of ethiopians)

27
Q

what is gene therapy

A

treating or curing disease by altering gene expresison

correct genetic defects in inherited diseases

28
Q

how can you replace defective genes?

A

transgenes transferred into body cells
NOT GERM LINE- ILLEGAL passes to offspring
can be from just one injection

29
Q

issues with replacing defrective genes

A

insufficient delivery to target cells
adverse effects
autoimmune response
off targets

30
Q

what is delivery using vectors

A

retroviruses used to intergrate into the host genome- transfers gene into genome

31
Q

size of genes which can be integrated using vectors

A

small, some diseases have large mutations so wouldnt work here

32
Q

effect of adenoviral vectors? long lasting? used in which diseases?

A

dont intergrate into the genome or replication- temporary effects
cancer

33
Q

what is an adeno associated virus? why do we use?

A

human DNA containing viruses that wont trigger an immune response

34
Q

what does PG commonly need to help treatment outcomes

A

needs knowledge of the geneome before prescribing

35
Q

what is a KRAS mutation? common in what?

A

EGFR antibody wont work against them

30% of patients with colon cancer

36
Q

HER2 overexpression in ___% of BC

A

20

37
Q

what can PG be used to do in relation to older discontinued drugs

A

re-trial compounds where testing can aid

38
Q

TF its always a single variant causing the effect?

A

false can be lots of little ones

39
Q

what role may pharmacists have in PG in the future?

A

interpreting genetic tests to determine appropriate treatment

40
Q

difference betwen monogenic and polygenic effects

A

monogenic: mendelian, one gene, easy to identify
polygenic: lots of variants in more than one gene, harder to pinpoint

41
Q

what does 312 G>A mean

A

guanine at nucleotide position 312 in a particular sequence is changed to an A

42
Q

what does p mean what does q mean

A

p: short arm of the chromosome (petite)
q: long arm

43
Q

what does 6p12.2 mean

A

chromosome 6, at area 12.2 million base pares on the short arm

44
Q

what does G312A mean

A

glycine at position 312 has been changed to alanine

45
Q

what level is CYP2D6*4

A

the phenotype level

46
Q

what does homozygous for risk allele mean? heterozygous for risk alleles?

A

2 copies

1 copy- carrier can pass to children

47
Q

what does compound heterozygous mean

A

2 risk alleles from different places in the DNA

patient MCQ (22 decks)

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