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IMS > DNA and genes > Flashcards

DNA and genes Flashcards

1
Q

3 components of a nucleotide

A
  • phosphate
  • sugar
  • nitrogenous base
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2
Q

2 types of base

A
  • pyramidine

- purine

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3
Q

purine bases

A

A G

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4
Q

pyramidine bases

A

C, T, U

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5
Q

how many double bonds between G and C

A

3

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6
Q

how many double bonds between A and T

A

2

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7
Q

Protein in chromatin which compacts DNA

A

Histone

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8
Q

components of the histone core

A

2 x H2a
2x H2b
2 x H3
2 x H4

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9
Q

Name of top arm of chromatid

A

p

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10
Q

name of bottom arm of chromatid

A

q

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11
Q

in which phase of the cell cycle does DNA replication occur?

A

S phase

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12
Q

DNA replication - which enzyme breaks H bonds between bases

A

DNA helicase

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13
Q

DNA replication - where do proteins bind to stop the strands from joining back up?

A

replication fork

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14
Q

In the leading strand which direction does DNA replication occur?

A

5’ to 3’

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15
Q

DNA replication - what binds to the 3’ parent strand?

A

RNA primer

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16
Q

what produces the RNA primer?

A

DNA primase

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17
Q

DNA replication - which enzyme attaches to the RNA primer to add base pairs on the leading strand?

A

DNA polymerase alpha

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18
Q

DNA replication - What degrades RNA primer ?

A

RNAse H

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19
Q

DNA replication - which enzyme joins the strands together at the end?

A

DNA ligase

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20
Q

what is epigenetics?

A

heritable changes which are expressed - but not caused by a change in the DNA sequence

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21
Q

2 applications of DNA replication

A

1) PCR

2) Sanger method

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22
Q

Which RNA polymerase produces rRNA?

A

RNA P 1

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23
Q

what does RNA P 2 form?

A

mRNA

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24
Q

what does RNA 3 form?

A

tRNA + small ribosome RNA molecules

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25
Q

3 stages where gene expression is regulated?

A
  1. transcription
  2. splicing
  3. translation
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26
Q

Transcription - what binds with promoters in DNA

A

RNA polymerase

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27
Q

Transcription - which enzyme breaks H bonds between strands?

A

RNA polymerase

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28
Q

Transcription - what RNA is formed?

A

mRNA

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29
Q

how does mRNA leave the nucleus?

A

nuclear pores

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30
Q

what 2 things occur during mRNA processing?

A

1) capped 5’

2) cleaved 3’

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31
Q

what occurs during capping?

A
  • P

+ methylated guanine molecule

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32
Q

what occurs during cleaving?

A

+ 200 nucleotide tail via poly-A-polymerase

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33
Q

which 2 things attach to the intron during splicing?

A

splicesosome + SnRNPs

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34
Q

how do transcription factors affect gene expression?

A

increase it

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35
Q

where do transcription factors bind to on the gene?

A

promoter region

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36
Q

2 mechanisms of transcriptional control

A

1) switching on a gene

2) switching off a gene

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37
Q

2 ways genes can be switched off

A

1) repressor binds next to transcription activator

2) repressor binds in the transcription activators place - inhibition

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38
Q

in which organ is the WTP transcription factor present?

A

Kidney

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39
Q

which gene does the WTP join to?

A

EGR-1 gene

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40
Q

effect of WTP and EGR-1 joining?

A

switches of EGR-1 expression

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41
Q

when WTP is mutated what can it cause and why?

A

kidney tumours - due to uncontrolled EGR-1 expression

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42
Q

what are the stop codons?

A

AGA, UAA, UAG

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43
Q

what is the start codon?

A

AUG - met

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44
Q

how is translation controlled?

A

mRNA degradation

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45
Q

how are isoforms formed?

A

alternative gene splicing

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46
Q

what proteins do tertiary structures form? (2)

A
  1. fibrous

2. globular

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47
Q

what are proproteins?

A

proteins which are inactive until activated by post-translational modifications (PTM)

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48
Q

example of proprotein activation

A

insulin

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49
Q

what enzyme removes signal recognition peptide?

A

signal peptidase

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50
Q

SCALP

A 
s - addition of small groups 
c - proteolytic cleavage
a - AA change chemical structure
l - addition of long groups
p - proline isomerisation
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51
Q

in proteolytic cleavage, at which bond is it cleaved?

A

peptide

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52
Q

where can the proteolytic cleavage occur?

A

N - terminus or internally

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53
Q

what is proline isomerisation?

A

Cis and trans transformation of proline

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54
Q

where is phosphate donated from in phosphorylation?

A

ATP

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55
Q

what enzyme adds phosphates?

A

protein kinase

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56
Q

what enzyme removes phosphate?

A

protein phosphotase

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57
Q

when is phosphorylatation used? - biological process

A
  • activating pyruvate
  • EGF
  • CDKs
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58
Q

what enzyme adds acetyl groups?

A

protein acetyltransferase

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59
Q

what enzyme removes acetyl groups?

A

protein deACetylase

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60
Q

when is acetylation used?

A
  • histones

- gene transcription

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61
Q

where is methyl groups taken from?

A

s-adenosyl-methionine

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62
Q

which enzyme adds methyl groups?

A

methyltransferase

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63
Q

which enzyme removes methyl groups?

A

protein demethylase

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64
Q

2 processes of addition of large functional groups

A

1) glycosylation

2) mono-poly ubiquitination

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65
Q

what is added to a protein to create a glycoprotein?

A

sugar - poly/monosaccaride

66
Q

what protein is added in ubiquitination?

A

ubiquitin

67
Q

what amino acid of the ubiquitin is added to the lysine of a protein?

A

Glycine

68
Q

if one ubiquitin protein is added, what occurs?

A

change in protein structure

69
Q

if many ubiquitin proteins are added, what occurs?

A

protein degradation

70
Q

what does the E1 ubiquitin enzyme do?

A

allows joining of ubiquitin and substrate

71
Q

which enzyme catalyses the functioning of ubiquitin?

A

E2 - conjugating enzyme

72
Q

which enzyme is involved in deubiquitination of proteins?

A

proteosome

73
Q

2 uses of polyubiquitinisation

A
  1. removal/degradtion of faulty proteins

2. controls protein lifespan

74
Q

what is lipidation?

A

adding lipids or fatty acids

75
Q

why are lipids added to proteins?

A

to make them soluble to pass through the plasma membrane

76
Q

4 diseases caused by errors in gene expression

A
  1. cystic fibrosis
  2. spinal muscular atropy
  3. duchene muscular dystrophy
  4. pulmonary arterial hypertension
77
Q

mutated gene in cystic fibrosis?

A

CFTR

78
Q

mutated gene in spinal muscular atrophy?

A

SMN1

79
Q

mutated gene in duchene muscular dystrophy

A

DMD

80
Q

mutated gene in pulmonary arterial hypertension?

A

BMPR2

81
Q

what can be caused if there is over-expression of transcription factors?

A

cancer

82
Q

what is haplionsuffiency?

A

when 1 copy of the gene is not sufficient for protection

83
Q

disease caused by mRNA processing error?

A

Cystic fibrosis

84
Q

in what specific process does cystic fibrosis gene arror occur?

A

alternative splicing

85
Q

which exon is skipped in the CFTR gene to cause CF?

A

7

86
Q

2 techniques to detect DNA, RNA and proteins

A

1) gel electrophoresis

2) western/southern blot

87
Q

what is DNA polymorphism?

A

DNA variation

88
Q

5 ways mutations arise:

A
  1. strand breakage
  2. base loss
  3. base change
  4. DNA cross-linking
  5. DNA replication error
89
Q

which bond is broken in base loss?

A

glycosidic bond

90
Q

in base changes, what is C changed to?

A

U

91
Q

which agents cause DNA cross-linking?

A
  • UV light

- Anti-cancer agents

92
Q

3 types of mutation;

A
  1. point
  2. indel
  3. chromosomal
93
Q

which type of mutation affects a couple of nucleotides

A

indel mutation

94
Q

3 types of chromosomal mutations

A
  1. polyploidy
  2. aneuploidy
  3. chromosome rearrangements
95
Q

which chromosomal mutation involves a few chromosomes

A

polyploidy

96
Q

what is aneuploidy chromosomal mutations?

A

abnormal number of extra/missing chromosomes

97
Q

difference between missense and nonsense mutations

A 
missense = results in loss/gain of function
nonsense = results in non-functional protein
98
Q

what type of codon arises in nonsense mutations

A

STOP

99
Q

which point mutation results in pulmonary hypertension?

A

missense - loss of funtion

100
Q

which point mutation results in achondrioplasia?

A

missense - gain of function

101
Q

what disease is caused by a non-sense mutation?

A

Duchene muscular dystrophy

102
Q

what is used to identify mutations?

A

electropherogram

103
Q

what is a simple tandon repeat?

A

same part of a sequence repeated many times

104
Q

example of simple tandon repeat disease

A

Huntingtons

105
Q

in what gene are the repeats in huntingtons disease?

A

IT15 gene

106
Q

what is a transposon?

A

a sequence of DNA which can move around the gene

107
Q

transposon which copies and pastes

A

retroposon

108
Q

What does a DNA transposon do?

A

cut and paste DNA sequences

109
Q

example of Alu repeats

A

Cholesterol (LDL)

110
Q

what is a selective pressure?

A

diseases which have a protective effect

111
Q

which disorder protects against sickle cell anaemia?

A

Malaria

112
Q

what is the open reading frame?

A

region between start and stop codon

113
Q

2 types of protein secretion

A

1) constitutive (non-regulatory)

2) regulated

114
Q

what is translocation?

A

movement of protein to the site of action

115
Q

what are the 2 translocation pathways?

A

1) direct

2) secretory

116
Q

what is the direct translocation pathways?

A

cytosol, mitochondria, nucleus, perioxsomes

117
Q

where does post translational modifications occur?

A

Golgi

118
Q

where do the vesciles travel to after the golgi?

A

Cytoplasm

119
Q

what type of gland is the pancreas?

A

both endocrine and exocrine

120
Q

what group of cells make up the endocrine pancreas?

A

islets of langerhans

121
Q

3 cells of islets of langerhans

A

alpha beta gamma

122
Q

what cells make up the exocrine pancreas?

A

secretory acini

123
Q

what 2 enzymes are released by the acini cells

A
  • chymotrysinogen

- trypsinogen

124
Q

what is a zymogen?

A

inactive substance which is coverted to an enzyme by another enzyme

125
Q

which organ conducts protein synthesis?

A

Ribsomes on rough ER

126
Q

how do secretory proteins enter the ER lumen to segregate from the cytosolic proteins?

A

via signal recognition proteins (SRPs)

127
Q

how are proteins processed?

A

glycosylation

128
Q

when are proteins exocytosed?

A

when ligands bind to the cell membrane

129
Q

2 causes of disease:

A

1) genetics

2) environment

130
Q

what is multifactorial inheritance?

A

phenotype determined by multiple genes at multiple loci

131
Q

which has a higher penetrance, monogenic or polygenic diseases?

A

monogenic

132
Q

which disease type can have gene predisposition and environmental contribution?

A

polygenic

133
Q

what does it mean if a disease is fully penetrant?

A

other genes or the environment doesnt affect it

134
Q

In the threshhold model, the frequency of distribution is being measured between who?

A

relatives vs the general population

135
Q

what are epistatic alleles?

A

only have an effect if in conjuction with another mutation

136
Q

what disease is strongly influenced by genes?

A

autism

137
Q

what does SNP stand for?

A

single nucleotide polymorphism

138
Q

what is a SNP?

A

point mutation occuring in the same place (gene) in another chromosome

139
Q

chromosomal deletion syndrome?q

A

DiGeorge syndrome

140
Q

what are autosomal diseases?

A

not affecting sex chromosomes

141
Q

term that describes, ‘different mutations in the same gene cause different diseases’

A

genetic heterogenecity

142
Q

what is prophylaxis?

A

treatment given to prevent disease

143
Q

another word for pharmacogenomics?

A

precision medicine

144
Q

what is pharmacogenomics

A

correlating gene expression from SNPs with a drugs efficacy/toxicity

145
Q

advantages of precision medicine

A
  • max efficacy

- minimal ADR

146
Q

what does the process of pharmacogenomics measure?

A

polymorphisms in cytochrome P450

147
Q

what is a genome

A

someones complete set of data

148
Q

what is a nonsynomous mutation

A

a mutation that results in change in protein structure

149
Q

what is gene therapy

A

replacing bad genes with good genes

150
Q

2 types of gene therapy

A
  1. germline

2. somatic

151
Q

which gene therapy only affects the individual?

A

somatic

152
Q

definition of transgene delivery

A

genetic material which has been transferred naturally or by genetic engineering techniques from one organism to another

153
Q

what does en vivo mean

A

outside of the bodyq

154
Q

which type of gene therapy involves a delivery vehicle?

A

en vivo

155
Q

what is the adenovirus?

A

common cold

156
Q

what is the herpesvirus?

A

cold sore

157
Q

what is the retrovirus?

A

HIV

158
Q

which virus carries the DNA in the virion?

A

Herpesvirus

159
Q

what virus carries RNA + Reverse transcriptase?

A

Retrovirus

160
Q

which is the only virus to use its own transcription mechanism?

A

Retrovirus

IMS (14 decks)

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