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Harroon > IMMS2 > Flashcards

IMMS2 Flashcards

1
Q

What is DNA?

A

Deoxyribonucleic acid

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2
Q

What is RNA?

A

Ribose nucleic acid

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3
Q

What is structural difference between RNA and DNA? (2)

A

DNA- deoxyribose sugar
RNA- ribose sugar

DNA double stranded
RNA single strand

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4
Q

What is function DNA?

A

Store genetic info
AT CG

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5
Q

What is function RNA?

A

Transfer genetic info
AU CG

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6
Q

What are 3 bases in DNA called?

A

Triplet

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7
Q

What are 3 bases in RNA called?

A

Codon
AU CG

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8
Q

State process semi conservative DNA replication?

A

1) Topoisomerase unwinds supercoil
2) Helicase breaks H bonds- expose bases
3) Single strand bases- bid exposed bases avoid re-annealing to other strand
4) Free nucleotides bind complimentary to exposed template bases on DNA strands
5) DNA polymerase- catalyse phosphodiester bonds between free nucleotides
Read 3’-5’- antiparallel
Synthesise 5’-3’- antiparallel
6) DNA Ligase joins okazaki fragments- phosphodiester bonds

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9
Q

How is DNA configured?

A

Antiparallel configuration

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10
Q

Function of SSBs?

A

Bind to exposed bases to avoid reannealing to other strand

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11
Q

What are enzymes in DNA replication? (5)
Function?

A

1) Topoisomerase- unwind supoercoil
2) DNA helicase- break H bonds- expose bases
3) SSB’s- bind exposed bases prevent re-annealing
4) DNA polymerase- form phosphodiester bonds between free nucleotides
5) DNA ligase- form ozaki fragments on lagging strand by phosphodiester bonds

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12
Q

Where does transcription occur?

A

Nucleus

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13
Q

Outline process of transcription?

A

1) Initiation
Topoisomerase- unwinds supercoil
DNA Helicase- break H bonds
SSB’s- prevent reannealing
2) Production
Free mRNA nucleotides bind
Initiated by TATA box sequence (promotor region)
AUG (Methionine)- start codon
RNA polymerase travels 5’ to 3’ from promotor to stop codon
Pre-mRNA released
3) Splicing
Remove introns- now able translated

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14
Q

Function of transcription and translation?

A

Synthesise new proteins

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15
Q

What are introns?

A

Non-conding codons

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16
Q

What are exons?

A

Coding
Exons expressed

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17
Q

What is start codon for RNA polymerase?

A

AUG (Methionine)

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18
Q

Where does translation occur?

A

Cytoplasm

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19
Q

Outline process translation?

A

1) mRNA moves out nuclear pore, enter cytoplasm
2) mRNA bind small ribosomal small unit- recognised by start codon- AUG
3) tRNA- large ribosomal unit- carry aa to mRNA
4) tRNA binds complimentary to mRNA codons using anticodons- form H bonds temporarily
5) Ribosome move along mRNA
6) Once ‘read’ tRNA molecules detach- leave aa
7) Adjacent aa form peptide bonds
8) Polypeptide chain released at mRNA stop codon
9) Sent to golgi

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20
Q

What bonds from between amino acids?

A

Peptide bonds

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21
Q

How many chromosomes?

A

46 total
44 autosomal, 2 sex
mean 22 autosomal pairs
1 sex pair

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22
Q

Where is DNA found? (2)

A

Nucleus
Maternal mitochondria

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23
Q

Draw cell cycle

A
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24
Q

What parts of cell cycle make interphase?

A

G1
S
G2

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25
Q

What occurs during G1 phase?

A

Preparation
Organelles replicate
DNA doesn’t

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26
Q

What occurs S phase?

A

DNA replication

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27
Q

In what phase does DNA replication occur?

A

Synthesis

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28
Q

What occurs in G2 phase?

A

Preparation mitosis

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29
Q

What checkpoints are there?

A

G1 checkpoint- check DNA damage pre-DNA replication
- if damage tumour suppressing genes
activated (p53) activate p21- autolysis to
prevent tumour growth
G2 checkpoint- check DNA damage before mitosis
- remove damaged bases through
glycolyase enzymes

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30
Q

Outline cell cycle

A

G1- organelles replicate, DNA doesn’t (prep)
G1 checkpoint- check DNA damage pre DNA replication
- if damage act p53- act p21- cell autolysis
S phase- DNA replication
G2- prepare mitosis
G2 checkpoint- check DNA damage pre-mitosis
- damaged bases removed by glycolyase
Mitosis- PPMAT (C)

G0- NO replication, fully differentiated

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31
Q

What phase are cells fully differentiated?

A

G0

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32
Q

What are tumour suppressor genes?

A

Damage to DNA- act p53 act p21- cell autolysis

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33
Q

Outline stages mitosis?

A

Prophase
Prometaphase
Metaphase
Anaphase
Telophase
Cytokenesis

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34
Q

What occurs during prophase?

A

Nuc envelope breakdown
Centrioles move polar ends
Chromosomes condense- change chromatin to chromosomes

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35
Q

What occurs during prometaphase?

A

Centromeres binds to spindle

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36
Q

What occurs in metaphase?

A

Chromosomes line up on equatorial plate

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37
Q

What occurs anaphse?

A

V shaped
Sister chromatids pulled polar cell ends

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38
Q

What occurs in telophase?

A

Chromosomes to chromatin
2 nuclear envelopes reform

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39
Q

What occurs in cytokenisis?

A

Division cytoplasm
2 genetically identical daughter cells

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40
Q

What is function mitosis?

A

Form 2 genetically identical daughter cells

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41
Q

Is cytokenesis part of mitosis?

A

Yes

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42
Q

Outline stages of meiosis?

A

M1- mitosis 1- genetic info become haploid
- 2n to n
- still 2 sister chromatids
- prophase 1- crossing over
- metaphase 1- independent segregation
M2- genetic info remains haploid
- 1 chromatid chromosomes

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43
Q

How is genetic diversity achieved in meiosis?

A

Prophase 1- crossing over
Metaphase 1- independent segregation

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44
Q

What is function meiosis? Produce?

A

Reduce number chromosomes in parent cell by half
Produces four gamete cells
Needed sexual reproduction

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45
Q

What is process of sperm development?

A

Spermatogenesis

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46
Q

What is process of developing egg?

A

Oogenesis

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47
Q

When does spermatogenesis begin?

A

Puberty

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48
Q

Even or unequal cell division in spermatogenesis?

A

Even

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49
Q

Outline process spermatogenesis?

A

1) Spermatogonia becomes 1 degree spermatocyte
2) M1- 1 primary spermatocyte to 2 secondary spermatocytes
- 2n to n
3) M2- 2 secondary spermatocyte to 4 spermatids
4) Differentiate into mature sperm- spermatazoa

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50
Q

What are spermatids?

A

Immature sperm

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51
Q

What does spermatogenesis produce?

A

4 haploid daughter cells
Genetically different

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52
Q

What is mature sperm referred to?

A

Spermatazoa

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53
Q

When does oogenesis occur?

A

Begins at birth
Suspended until ovulation

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54
Q

Even or uneven cytoplasmic division in oogenesis?

A

Uneven

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55
Q

In oogenesis when does miosis 2 occur?

A

Fertilisation

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56
Q

Outline process oogenesis?

A

1) Oogonia matures primary oocyte
2) M1- from oocyte forms secondary oocyte and polar body
3) M2- from secondary oocyte form ootid and 3 polar bodies
4) Ootid mature into ovum

(only one made)

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57
Q

What is M2 division in oogonesis? When occur?

A

From secondary oocyte to ootid and 3 polar bodies
Only complete at fertilisation

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58
Q

What are 2 meiotic pathologies?

A

1) non-dysjunction
2) gonadal mosaicism

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59
Q

What is non-dysjuntion? Give 2 examples

A

Failure seperate in meiosis 1- chromosomes
meiosis 2- sister chromatids
Trisomy- downs
Monosomy- Turners

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60
Q

What is gonadal mosaicism? Example and risk factor?

A

One healthy parent has mutated germ line
Increase chance age
Duchenne

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61
Q

How can parent be healthy but child not?

A

Gonadal mosaicism

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62
Q

Define polymorphism?

A

Non pathogenic variation at a locus from wild type

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63
Q

What is wild type allele?

A

Normal

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64
Q

Define consinguinity?

A

2 relatives union

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65
Q

Define penetrance?

A

%ppl with expected phenotype from their genotype

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66
Q

Define variable expression?

A

Some ppl express genotype differently

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67
Q

Define anticipation? Example

A

Trinucleotide repeats become bigger over time
Symptoms earlier and more severe
Over 17- CAG huntingtons

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68
Q

What repeat causes huntingtons?

A

CAG
Autosomal dominant

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69
Q

Define congenital disease?

A

At birth

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70
Q

Define late onset?

A

Manifest after birth- later in birth

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71
Q

Define autozygosity?

A

Same mutation from both sides of family

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72
Q

Define hemizygous?

A

Genes carried on an unpaired chromosome
Eg. men hemizygous for genes on Y

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73
Q

Define lyonisation?

A

1 female X randomly inactivated
Prevent 2 genes
Normal
Men doesn’t occur

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74
Q

Define imprinting?

A

1 allele suppressed of 2 inherited

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75
Q

Define sex limitation? Example

A

Gene defect effect 1 sex only
E.g BRCA1

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76
Q

What are types mendelian traditional disease?

A

Autosomal dominant
Autosomal recessive
X linked
Y linked

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77
Q

Explain autosomal dominant
Carriers?
Transmission between sexes?
How many gen effected?
Example?

A

Affect AA/Aa- only need 1 pathogenic allele
No carriers
Equal transmission (think m-m pot)
Multiple gen effected
Huntingtons

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78
Q

Explain autosomal recessive
Carriers?
Transmission between sexes?
How many gen effected?
Example?

A

Affects aa- need 2 pathogenic allele
Carriers Aa
Equal transmission
Skip generation due carriers
Cystic fibrosis- middle aged cauc

79
Q

Explain X linked?

A

No male to male transmission as man never passes X chromo
Female carriers give to affected men
Male 1X therefore always affected if passed it

80
Q

Explain Y linked?

A

Only males
Dad to all sons

81
Q

What is most common auto recessive disease in male cauc?
What is carrier freq?
What is incidence?
What is defect?

A

CF
Carrier freq- 1/25
Incidence- 1/2500
F508 defect

82
Q

What is non-traditional disease? Explain?

A

Mitochondrial- only maternal DNA
- transmission mother to child

83
Q

Define mutations?

A

Spontaneous DNA base seq change

84
Q

What do genes code for?

A

AA

85
Q

What do AA code for?

A

Proteins

86
Q

State meaning symbols

A

Unaffected clear
Affected shaded

Square male
Circle female

87
Q

Meaning symbol?

A

Dead male

88
Q

Meaning of symbol?

A

Twins

89
Q

Meaning of symbol?

A

Identical twins

90
Q

Meaning of symbol?

A

Unborn, sex unknown

91
Q

Meaning symbol?

A

Still birth, sex unknown

92
Q

Meaning symbol?

A

Termination

93
Q

What is this symbol?

A

Ongoing pregnancy

94
Q

What does this symbol represent?

A

Consanguinity- reproductive union 2 relatives

95
Q

What disease type is this?

A

Autosomal dominant
because
multiple gen effected
m to male transmission
m and f equally

96
Q

What disease type is this?

A

Autosomal recessive
because
skip generation
more likely manifest consanguinity
m and f equal

97
Q

What is risk factor for autosomal recessive disease?

A

Consanguinity

98
Q

What disease type is this?

A

X linked- this dominant
No male to male transmission

99
Q

What is this disease type?

A

Y linked- from father to all sons

100
Q

Name 5 types mutations?

A

1) Deletion- remove base
2) Duplication- repeat bases
3) Inversion- DNA segment reversed
- paracentric- outside centromere
pericentric- include centromere
4) Translocation- exchange with nonhomolog chromo
5) Substitution- mis-sense- codes new aa eg. HBA-HBS
- nonsense- cause premature stop codon

101
Q

List 3 stop codons? What mutation an issue?

A

UAA, UAG, UGA
non-sense- cause premature stop

102
Q

What is in frame deletion?
What is out frame deletion?

A

Deletion in frame- functional protein
Deletion out frame- disrupt whole protein

103
Q

What is mis-sense mutation? eg

A

Code new aa
HBA-HBS

104
Q

What is polymorphism mutation?

A

Non pathogenic- variations

105
Q

What is gene pathogenic mutation?

A

Affect gene products (proteins)

106
Q

What is whole chromosome mutations? (2 Types)

A

Numerical- 23 plus minus
Structural- translocations, deletions etc

107
Q

Define karyotype?

A

Show numerical chromosome configuration

108
Q

Define ideogram?

A

Show distinct banding of chromosome

109
Q

Draw and label chromosome

A

Petite arm- p22.3
Q- long arm 36.3q

110
Q

What issues causes following diseases?
Turners
Downs
Edwards
Pataus
Kleinefelders

A

Turners- X monosomy
Downs- Trisomy 21 (extra chromo)
Edwards- Trisomy 18
Pataus- Trisomy 13
Kleinefelders- XXY trisomy

111
Q

What is centromere arm referred to?

A

11.1 Increase as go away centromere
22.3- petite
36.3- q

112
Q

Definition of metabolism?
What is metabolic rate?

A

All intracellular reactions occur in body
Rate this occurs at

113
Q

Energy values?
Carb
Protein
Alcohol
Fat
1 unit alcohol how many grams/ml

A

Carb- 4 kcal/g
Protein- 4 kcal/g
Alcohol- 7 kcal/g
Fat- 9 kcal/g
1 unit alcohol- 8g/10ml

114
Q

Define absorptive state?

A

Body wants store macromolecules for post absorptive state

115
Q

What lvls insulin and glucagon in absorptive state?

A

High insulin, low glucagon
Insulin used storage

116
Q

Where is fat stored?

A

Adipocytes
ITO cells
Triglyceride

117
Q

Where is carb stored? (2)

A

Liver and skeletal muscle
Glycogen stores

118
Q

Where is protein stored? (2)

A

Muscle
Liver

119
Q

What are lvls insulin and glucagon in postabsorptive state?

A

Low insulin, high glucagon
Glucagon break macromolecule stores

120
Q

What chemical process occurs in postabsorptive state?

A

Glycogenolysis- glucose reserves used for energy

121
Q

What does glucagon utilise first?

A

Glucose stores liver and skeletal muscle
Fat stores
Muscle stores

122
Q

Draw glycolysis?

A
123
Q

Explain each stage glycolysis?

A
124
Q

What is hexokinase called in liver?

A

Glucokinase

125
Q

What is rate limiting enzyme in glycolysis?

A

Phosphofructokinase-1
PFK1

126
Q

TIP 3-2 is mutation therefore enzyme mutase

A

TIP 3-2 is mutation therefore enzyme mutase

127
Q

What is net yield glycolysis?

A

2 pyruvate
2 NADH
2 ATP

128
Q

What regulatory steps glycolysis? (2)

A

1) G6P controls hexokinase action (eqbm)
Higher conc G6P less hexokinase action mean more glucose
2) PFK1- MAIN
Affected- AMP- high AMP high PFK1
- ATP- high ATP low PFK

129
Q

What is rate limiting step in glycolysis?

A

Fructose-6-phosphate to fructose-1,6-bisphosphate

130
Q

What 2 steps produce ATP in glycolysis?

A

1-3 bisphosphoglycerate to 3 phosphoglycerate
(2ADP-2ATP)
Phosphoenylpyruvate to pyruvate
(2ADP-2ATP)

131
Q

High or low insulin increase rate glycolysis?

A

Insulin increase rate glycolysis
Effects PFK

132
Q

Pneumonic

A

Gross Guys Feed Fat Dorky Girls Balls 4P

133
Q

Does glycolysis require oxygen?

A

No- anaerobic

134
Q

What does anaerobic respiration produce?

A

Lactate
NAD+ mean glycolysis continue

135
Q

What respiration is TCA/Krebs involved in?

A

Aerobic resp

136
Q

What links glycolysis and krebs?

A

Pyruvate converted acetyl coA
Acetyl coA enters Krebs

137
Q

Draw krebs/TCA cycle?

A
138
Q

What is main rate limiting enzyme in Krebs?

A

Isocitrate dehydrogenase

139
Q

What is main rate limiting step in Krebs?

A

Isocitrate to alpha ketoglutarate

140
Q

What are 3 rate limiting enzymes in Krebs?

A

1) Citrate synthase- allosteric inh- ATP and NADH
- comp inh- succinyl coA
2) Isocitrate dehydrogenase- MAIN
- demand oxp quicker
3) Alpha ketoglutarate dehydrogenase- conc. products

141
Q

Function of Krebs?

A

Produce NADH and FADH2 for oxidative phosphorylation

142
Q

Net product Krebs cycle?

A

2C
3 NADH
1 FADH
1 ATP/GTP

143
Q

Net product Krebs cycle?

A

2C
3 NADH
1 FADH
1 ATP/GTP

144
Q

How many times can glucose molecules support krebs?

A

2

145
Q

Where else can acetyl coA enter from?

A

Beta oxidation of FA

146
Q

What is another source alpha ketoglutarate?

A

Oxidative deamination of glutamate
Reverse transamination of glutamate and pyruvate

147
Q

What inhibits krebs/tca cycle?

A

NH3- ammonia
can cross BBB react akg
deplete oxaloacetate

148
Q

Outline oxidative phosphorylation?

A

1) NADH to complex 1
FADH2 to complex 2
2) Deposit H+ and e-
NAD and FADH2 reoxidised returned resp pathway
3) H+ and e- enter electron chain complex
complex 4 is end of etc
O2 is terminal e- acceptor
4) Energy from electron transport chain pumps H+ across mitochondrial matrix into intermembrane space
5) H+ return through ATPase channels and combine with O2 at complex 4
H+ + O2 = 4e- get 2H20
6) As H+ return through ATPase channels causes ADP combine phosphate from ATP
ADP + Pi= ATP

149
Q

What is terminal e- acceptor in oxidative phosphorylation?

A

O2

150
Q

Where does glycolysis occur?

A

Cytoplasm

151
Q

Where does Krebs occur?

A

Mitochondrial matrix

152
Q

Where does oxidative phosphorylation occur?

A

Across mitochondrial membrane

153
Q

What equation occurs at complex 4 in oxidative phosphorylation?

A

H+ + O2 = 4e- get 2H20

154
Q

How much ATP per glucose?

A

30-34

155
Q

What occurs to Fatty Acids in beta oxidation?
Where is initial reaction?

A

Cytoplasm
FA converted acyl adenylate in cytoplasm
Acyl adenylate converted acyl coA by acyl coA synthase

1)FA
2) Acyl adenylate
3) Acyl coA

156
Q

Outline process beta oxidation

A

1) In cytoplasm FA converted acyl adenylate
2) Acyl adenylate converted acyl coA
3) Acyl coA (12C+) shuffled into mitochondrial matrix via cartinine shuttle
4) Undergo series reactions in mitochondria
Oxidation and hydrolysis
5) Produce acetyl coA
6) Acetyl coA enter krebs

157
Q

What is rate limiting step in fatty acid beta oxidation?

A

Cartinine shuffle

158
Q

Function of beta oxidation?

A

Oxidation FA to obtain energy

159
Q

What is source of acetyl coA in krebs?

A

Fatty acid beta oxidation

160
Q

What occurs to acetyl coA formed as result of FA beta oxidation?

A

1) Krebs cycle
2) Excess- ketogenesis

161
Q

What produces most bodies ATP?

A

FA beta oxidation

162
Q

What occurs when excess acetyl coA (not all used in TCA)?

A

Ketogenesis

163
Q

Explain what ketones are? how formed?

A

Acetyl coA converted acetate, acetoacetate- ketones
Inactive, storage

164
Q

What occurs to ketones when need acetyl coA?

A

Ketones reversed back to acetyl coA for TCA

165
Q

When does diabetic ketoacidosis occur?

A

High ketone concentration in blood
Low blood glucose
High acidity due to ketones being weak acid
Affects Hb affinity

166
Q

What can brain use as fuel of glucose reserves out?

A

Ketones

167
Q

Can liver use ketones for fuel?

A

No- doesn’t have enzyme convert ketone to acetyl coA

168
Q

What is most important buffering system?

A
169
Q

What enzyme catalyses H2CO3 to H+ + HCO3-?

A

Carbonic anhydrase

170
Q

What is body pH?

A

7.35-7.45

171
Q

How is CO2 excreted/enter?
How is H+ excreted?
How is HCO3- recycled?

A

CO2- ventilation (resp)
H+ is renally excreted (kid)
HCO3- renally (kid)

172
Q

What is equation for carbonic anhydrase method?

A
173
Q

What is function Hb? (4)
Equations

A

1) Transport O2 Hb + O2 = HbO2
2) CO2 transport to lungs
3) Act as buffer- mup up H+ Hb + H+ = HbH
4) NO transport around body for vasodilation

174
Q

What is equation for formation oxyhaemoglobin?

A
175
Q

What is equation for carbaminohaemoglobin?

A
176
Q

What values for acidosis and alkalosis?

A
177
Q

What types acidosis and alkalosis?

A

Metabolic and respiratory

178
Q

What will arterial blood gas read metabolic acidosis?
Compensation?

A

Low pH
Low HCO3-

Comp- deep hyperventilating
Decrease CO2 (clear acidic gas)

179
Q

What would arterial blood gas read metabolic alkalosis?
Compensation

A

High pH
High HCO3-

Comp- hypoventilate (increase CO2- acidic)
renal HCO3- excretion

180
Q

What would arterial blood gas read respiratory acidosis?
Compensation

A

Low pH
High CO2

Comp- increase renal HCO3- retention
- increase HCO3-

181
Q

What would arterial blood gas read respiratory alkalosis?
Compensation

A

High pH
Low CO2

Comp- increase renal excretion of HCO3-
- decrease HCO3-

182
Q

Respiratory and metabolic acronym
ROME
Respiratory opposite- pH and CO2 opposite things
Metabolic equal- pH and HCo3- move equally

A

ROME

183
Q

Is HCO3- metabolic or repiratory?

A

Metabolic

184
Q

Can you have mixed acidosis/alkalosis?

A

Yes

185
Q

What is anion gap?
Main anions
Main cation

A

Anions takeaway cations
Anions- Na+ K+
Cations- Cl- HCO3-

186
Q

What is normal range of anion gap?

A

10-16

187
Q

What is function of ROS?

A

Key in respiratory burst
Immunological defensive mechanism
Phagocytes release ROS to hydrolyse foreign materials

188
Q

Give example ROS?

A

ClO-
Destroy bacterial cell membrane and wall

189
Q

Outline reduction oxygen into water?

A
190
Q

Is H2O a radical?

A

No- decomposed in chains reaction

191
Q

What is fenton reaction?
What is haber weiss reaction?

A
192
Q

What is unintended consequence of ROS?
What are diseases associated?

A

Damage own cells
Parkinsons
Diabetes
Renal failure

193
Q

How is body protected from ROS? (2)

A

Antioxidant vitamins E C
Cellular compartments

Harroon (5 decks)

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