3 - Genomics trigger Flashcards

1
Q

exome

A

protein coding regions of the genome

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2
Q

epigenome

A

modification to the genome

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3
Q

examples of modifications to the genome

A

methylation

histone acetylation

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4
Q

karyotype

A

chromosomal content of a cell

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5
Q

transgene

A

cDNA coding for any gene that is introduced into a cell

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6
Q

proband

A

the affected individual

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7
Q

SNP

A

single nucleotide polymorphism

e.g. insertions and deletions

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8
Q

example of a simple monogenic disorder

A

cystic fibrosis

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9
Q

GWAS

A

genome wide association study

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10
Q

examples of polygenic diseases

A

diabetes

Alzheimer’s

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11
Q

gDNA

A

genomic DNA

chromosomal dna

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12
Q

epigenetic

A

changes to DNA that do not affect its base sequence –

often environmental

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13
Q

linkage analysis

A

study aimed at establishing a linkage between genes

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14
Q

define linkage

A

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

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15
Q

what is linkage a measure of

A

how resistant to recombination a genetic marker and phenotype are

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16
Q

how do you test for linkagee

A

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

17
Q

how do you confirm your suspected mutant gene

A

transfect the gene in a wild-type transgene

18
Q

why is genetic linkage important

A

allows causes of rare disease to be identified

19
Q

what does GWAS look for

A

SNPs that are over-represented in disease patients

20
Q

what is GWAS

A

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

21
Q

what does GWAS stand for

A

genome wide association stufy

22
Q

steps involved in gwas

A

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

23
Q

polygenic disease

A

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

24
Q

mendelian randomisation

A

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

25
why is mendelian randomisation not affected by confounding variables
genotype is radnomly assigned to you at birth
26
what is RNA sequencing used for
quantifying how much of each mRNA from each gene you have under different conditions
27
3 steps in rna sequencing
purify mRNA reverse transcribe sequence the cDNA
28
why is software used in RNA seq
aligns results against database of known mRNAs
29
how would you quantify changes in gene expression under hypoxia and normoxia conditions
RNA sequencing | make a list of genes upregulated in hypoxia compared to normoxia
30
describe the graph made by RNA seq
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