Pharmacogenomics 1

Question 1

cost of sequencing is ______

Answer 1

dropping

Question 2

what is the human genome project

Answer 2

10 year international collaborative research programme

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

Question 3

TF we have more geans than other mammals?

Answer 3

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

Question 4

how many nucleotides?

Answer 4

3.2 billion

Question 5

individuals are ____% identical

Answer 5

99.9

Question 6

what is the NHS 100000 genomes project? who participates

Answer 6

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

Question 7

what is the UK biobank?

Answer 7

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

Question 8

what is genetics? how does this differ to genomics

Answer 8

study of DNA

studies the genes not the junk, genomics covers everything

Question 9

genotype codes for ____

Answer 9

phenotype

Question 10

___ pairs of chromosomes +2____

Answer 10

22 pairs
2 sex chromosomes
= 23 pairs and 46 chromosomes

Question 11

how are chromosomes ordered

Answer 11

by size normally

Question 12

process of DNA to protein? simple

Answer 12

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

Question 13

RNA is ____ compared to DNA. (stability)

Answer 13

unstable

Question 14

what can reverse transcription?

Answer 14

viruses
retrotransponsons
telomere extension

Question 15

_ons code for proteins

Answer 15

exons

Question 16

where are introns spliced?

Answer 16

from RNA- are coded into RNA first them removed

Question 17

____% of DNA is junk

Answer 17

95

Question 18

a key role of junk DNA?

Answer 18

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

Question 19

why do we have mutations if theyre linked to risk?

Answer 19

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

Question 20

whats copy number variation?

Answer 20

large chunks of DNA inserted, repeated or deleted

Question 21

what does synonymous mean

Answer 21

no change to AA sequence

Question 22

what is pharmacogenetics?

Answer 22

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

Question 23

common gene variant for AEDs

Answer 23

CYP450

Question 24

what can you sample to get dna

Answer 24

saliva, blood, cheek

Question 25

what can pharmacogenetics effect

Answer 25

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

Question 26

4 types of metaboliser?

Answer 26

poor intermediate extensive ultra rapid (29% of ethiopians)

Question 27

what is gene therapy

Answer 27

treating or curing disease by altering gene expresison | correct genetic defects in inherited diseases

Question 28

how can you replace defective genes?

Answer 28

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

Question 29

issues with replacing defrective genes

Answer 29

insufficient delivery to target cells adverse effects autoimmune response off targets

Question 30

what is delivery using vectors

Answer 30

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

Question 31

size of genes which can be integrated using vectors

Answer 31

small, some diseases have large mutations so wouldnt work here

Question 32

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

Answer 32

dont intergrate into the genome or replication- temporary effects cancer

Question 33

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

Answer 33

human DNA containing viruses that wont trigger an immune response

Question 34

what does PG commonly need to help treatment outcomes

Answer 34

needs knowledge of the geneome before prescribing

Question 35

what is a KRAS mutation? common in what?

Answer 35

EGFR antibody wont work against them | 30% of patients with colon cancer

Question 36

HER2 overexpression in ___% of BC

Answer 36

20

Question 37

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

Answer 37

re-trial compounds where testing can aid

Question 38

TF its always a single variant causing the effect?

Answer 38

false can be lots of little ones

Question 39

what role may pharmacists have in PG in the future?

Answer 39

interpreting genetic tests to determine appropriate treatment

Question 40

difference betwen monogenic and polygenic effects

Answer 40

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

Question 41

what does 312 G>A mean

Answer 41

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

Question 42

what does p mean what does q mean

Answer 42

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

Question 43

what does 6p12.2 mean

Answer 43

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

Question 44

what does G312A mean

Answer 44

glycine at position 312 has been changed to alanine

Question 45

what level is CYP2D6*4

Answer 45

the phenotype level

Question 46

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

Answer 46

2 copies | 1 copy- carrier can pass to children

Question 47

what does compound heterozygous mean

Answer 47

2 risk alleles from different places in the DNA