3 - Genomics trigger

Question 1

exome

Answer 1

protein coding regions of the genome

Question 2

epigenome

Answer 2

modification to the genome

Question 3

examples of modifications to the genome

Answer 3

methylation

histone acetylation

Question 4

karyotype

Answer 4

chromosomal content of a cell

Question 5

transgene

Answer 5

cDNA coding for any gene that is introduced into a cell

Question 6

proband

Answer 6

the affected individual

Question 7

SNP

Answer 7

single nucleotide polymorphism

e.g. insertions and deletions

Question 8

example of a simple monogenic disorder

Answer 8

cystic fibrosis

Question 9

GWAS

Answer 9

genome wide association study

Question 10

examples of polygenic diseases

Answer 10

diabetes

Alzheimer’s

Question 11

gDNA

Answer 11

genomic DNA

chromosomal dna

Question 12

epigenetic

Answer 12

changes to DNA that do not affect its base sequence –

often environmental

Question 13

linkage analysis

Answer 13

study aimed at establishing a linkage between genes

Question 14

define linkage

Answer 14

the tendency for genes to be inherited together due to location on the chromosome

Question 15

what is linkage a measure of

Answer 15

how resistant to recombination a genetic marker and phenotype are

Question 16

how do you test for linkagee

Answer 16

focus on very small chromosomal region
carry out lab studies to see if gene function is affected
think about gene therapy

Question 17

how do you confirm your suspected mutant gene

Answer 17

transfect the gene in a wild-type transgene

Question 18

why is genetic linkage important

Answer 18

allows causes of rare disease to be identified

Question 19

what does GWAS look for

Answer 19

SNPs that are over-represented in disease patients

Question 20

what is GWAS

Answer 20

observational study of a genome-wide set of variants in an indivudal to see if any genetic variation is associated with a trait

Question 21

what does GWAS stand for

Answer 21

genome wide association stufy

Question 22

steps involved in gwas

Answer 22

2 groups - diseased and healthy
sequence genomes to look for common SNPs
do allele frequencies differ between groups?
create odds ratio
if significantly different from 1 then SNP associated with disease

Question 23

polygenic disease

Answer 23

associated with the effects of multiple genes in combination with lifestyle and environmental factors
e.g. diabetes, alzheimers
not guaranteed inheritance

Question 24

mendelian randomisation

Answer 24

a method where people are grouped by their genetic variation of a known function
used to study cause and effect of exposure on disease

Question 25

why is mendelian randomisation not affected by confounding variables

Answer 25

genotype is radnomly assigned to you at birth

Question 26

what is RNA sequencing used for

Answer 26

quantifying how much of each mRNA from each gene you have under different conditions

Question 27

3 steps in rna sequencing

Answer 27

purify mRNA
reverse transcribe
sequence the cDNA

Question 28

why is software used in RNA seq

Answer 28

aligns results against database of known mRNAs

Question 29

how would you quantify changes in gene expression under hypoxia and normoxia conditions

Answer 29

RNA sequencing

make a list of genes upregulated in hypoxia compared to normoxia

Question 30

describe the graph made by RNA seq

Answer 30

no of mRNA copies on y-axis
different genes expression on x-axis
bar chart
2 different bars for each type of mRNA refer to the 2 different conditions e.g hypoxia/normoxia