Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

1 - FINALS > Fundamentals of Medicine > Flashcards

Fundamentals of Medicine Flashcards

1
Q

Carcinoma

A

Malignant tumour of epithelial cell origin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Adenocarcinoma

A

Malignant tumour of epithelial cell origin with a glandular growth pattern

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Squamous cell carcinoma

A

Malignant tumour of squamous epithelial cell origin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Sarcoma

A

Malignant tumour of mesenchymal tissue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Chondrosarcoma

A

Malignant tumour of cartilage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Fibrosarcoma

A

Malignant tumour of fibrous tissue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Osteosarcoma

A

Malignant tumour of bone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Leiomyosarcoma

A

Malignant tumour of smooth muscle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Rhabdomyosarcoma

A

Malignant tumour of striated muscle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What cancer does alcohol cause?

A

Hepatocellular carcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What cancer does smoking cause?

A

Lung carcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What cancer does soot cause?

A

Squamous cell carcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What cancer does asbestos cause?

A

Lung methothelioma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What cancer does HIV cause?

A

Kaposi sarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What cancer does EBV cause?

A

Burkitt’s lymphoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What cancer does HPV cause?

A

Cervical cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What cancer does hepatitis C cause?

A

Hepatocellular carcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What cancer does H. pylori cause?

A

Gastric cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Errors in nucleotide excision repair can lead to what condition?

A

Xeroderma pigmentosum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Errors in DNA mismatch repair can lead to what condition?

A

Colon cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Errors in homologous end joining can lead to what condition?

A

BRCA2

Breast and ovarian cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Paraneoplastic syndrome

A

Non-metastatic systemic effects accompanying malignant disease
Endocrine - Cushing’s disease hypo/hyperglycaemia
Neurological - Lambert-Eaton myastenic syndrome
Musculocutaneous - acnthosis nigricans
Haematological = granulocytosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Characteristics of anaplastic tissue

A 
Abnormal and prominent nuclei
Hyperchromasia
High nuclear-cytoplasmic ratio
Chromatin clumping 
Loss of polarity
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Overall cancer incidences

A

NMSC, breast, lung, colorectal, prostate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Children cancer incidence

A

Leukaemia, brain tumour, lymphoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Cancer mortality

A

Lung, colorectal, breast, prostate, pancreatic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Death %

A

Pancreatic, lung, brain, stomach, oesophagus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Where do T cells develop?

A

Thymus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What interleukin promotes T cell clonal expansion?

A

IL-2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What do Th1 T cells release?

A

IL-2, IFN,g, TNFa

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What do Th2 T cells release?

A

IL4, IL5, IL3, IL13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What causes Th0–>Th1?

A

IL-12, IL-23

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What causes Th0–>Th2?

A

IL-4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What causes Th0–>Th17?

A

IL-6, IL-21, TGFb

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What do Th17 cells release?

A

IL-17

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What causes Th0–>T-reg?

A

TGFb

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Inflammatory cytokines

A

IL-1, TNFa, IL-6

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Anti-inflammatory cytokines

A

IL-10, TGFb

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Which chemokine drives neutrophil recruitment?

A

CXCL8

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Which cytokine increases endothelial stickiness?

A

TNFa

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What enzymes do CD8 cells release?

A

Perforins and granzymes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Where do B cells develop?

A

Bone marrow

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What does the Fc portion of the antibody dictate?

A

Function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

What does the Fab portion of the antibody dictate?

A

Which antigen the antibody can bind to

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Which antibody exists as a pentamer?

A

IgM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Functions of antibodies

A 
Agglutination
Opsonization
Antibody-dependant killing
Neutralisation 
Activation of complement
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Secondary lymphoid tissues

A 
Spleen
Tonsils
Lymph nodes
Liver
Peyer's patches
Appendix
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

What does TLR4 recognise?

A

LPS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

What does TLR5 recognise?

A

Flagellum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

What does TLR9 recognise?

A

CpG DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

What does TRL7 recognise?

A

Double stranded viral NRA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Which antibody is made first?

A

IgM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Which is the most commonly found antibody in the blood?

A

IgG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

Which is the second most commonly found antibody in the blood?

A

IgA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

MHC class I

A

Present on all cells
Presents endogenous ligands
Presents to CD8 T cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

MHC class II

A

Present only on APCs
Presents exogenous ligands
Presents to CD4 T cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Polygenic

A

More than one type of each MHC class molecule

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

Polymorphic

A

There are multiple alleles within the population meaning most individuals are heterozygous

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

MHC class I types

A

A, B, C

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

MHC class II tupes

A

DR, DP, DQ

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

EC50

A

Half of the maximum response

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

Effect of competitive antagonism on EC50

A

High EC50

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

Effect of non-competitive antagonism on EC50

A

EC50 the same

Maximum response reduced

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

Intrathecal route of administration

A

Into CSF

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

Epidural route of administration

A

Outside dura

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

How does hepatic elimination work?

A

Through bile

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

Drugs with zero order elimination

A

Aspirin, phenytoin, ethanol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

Which phase of reactions is more affected by age?

A

Phase I reactions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

Volume of distribution formula

A

Amount of drug in body / plasma concentration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

Tachyphylaxis

A

Reduced drug effect on a short time scale

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

Glycopeptides

A

Gram positive cell walls

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

Beta lactams

A

Gram positive and negative but depends on the drug itself

Target cell wall synthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

Aminoglycosides

A

Gram positive and negative

Target 30s ribosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

Tetracyclines

A

Gram positive and negative

Target 30s ribosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

Macrolides and linsosamines

A

Target 50s ribosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

Quinolones

A

Target DNA gyrase and topisomerase

Broad spectrum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

Rifampicin

A

Targets RNA polymerase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

Polymyxin

A

Targets bacterial cell wall

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

Mechanisms of antibiotic resistnace

A 
Target modification 
Efflux pump
Degrading enzyme
Impermeability 
Resistance genes
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

Amantidine, rimantidine

A

Antivirals
Inhibit M2 protein
Prevent hydrogen ion influx
Inhibit uncoating and coating of new virions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
81
Q

Ribavarin

A

Guanine analogue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
82
Q

Neuraminidase inhibitor

A

Prevents cleavage of sialic acids

Prevents release from membrane

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
83
Q

Influenza specific adherance

A

Haemagluttinin

Sialic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
84
Q

E. coli specific adherance

A

Haemagluttinin

Mannose

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
85
Q

S. aureus stealth mechanism

A

Binds antibody in wrong orientation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
86
Q

Functions of exotoxins

A

Facilitate pathogenic spread
Lyse cells
Block protein synthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
87
Q

Prokaryotes

A

Bacteria

Archaea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
88
Q

Eukaryotes

A 
Fungi 
Protozoa
Algae 
Helminths 
Arthropods
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
89
Q

Gram positive cell wall

A

Thick peptidoglycan layer with no outer membrane

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
90
Q

Gram negative cell wall

A

Thinner peptidoglycan layer with an outer membrane

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
91
Q

Shapes of bacteria

A 
Spherical = cocci
Cylindrical = bacilli
Spirals = spirochaetes
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
92
Q

Groups of bacteria shapes

A 
Ball = staphylo- 
Chain = strepto-
Pair = diplo-
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
93
Q

Catalase test

A

Divides gram positive cocci
Staphylococci = catalase positive
Streptococci = catalase negative

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
94
Q

Staphylococci divisions

A

Coagulase positive = S. aureus

Coagulase negative

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
95
Q

Streptococci divisions

A

Alpha, beta, non haemolytic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
96
Q

Cellulitis pathogen

A

Streptococcus pyogenes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
97
Q

Erysipelas pathogen

A

Group A strep

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
98
Q

Scarlet fever pathogen

A

Group A strep

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
99
Q

Impetigo pathogen

A

Staphylococci or streptococci

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
100
Q

Enterobacteriaceae divisons

A 
Lactose fermenters (pink) - E. coli
Lactose non-fermenter (colourless) - pseudomons, salmonella
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
101
Q

Glandular fever pathogen

A

EBV

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
102
Q

Chicken pox pathogen

A

VZV

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
103
Q

Nucleocapsid structure

A

Aggregations of capsomeres to produce the capsid

Capsid associated with viral nucleic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
104
Q

Diseases of the nucelus

A

Laminopathies
Emery Dreifuss muscular dystrophy
Hutchinson-Gilford progeria syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
105
Q

RER function

A

Protein synthesis

Glycosylation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
106
Q

SER function

A

Synthesis of lipids and carbohydrates
Storage of calcium
Detoxification of drug toxins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
107
Q

Golgi function

A

Packaging of secretions

Proteins tagged for delivery

108
Q

Tay Sachs disease

A

Lysosomal disease

109
Q

Peroxisome functions

A

Metabolism of fatty acids
Detoxification of free radicals and hydrogen peroxide
Synthesis of plasmalogens

110
Q

Actin microfilaments

A

Polymerise in cell-cell movement
Maintain cell shape
Organelle and vesicle transport

111
Q

Intermediate filaments

A

Keratins in skin and hair
Muscle desmin
Provide tensile strength

112
Q

Diseases of laminin (intermediate filament)

A

Epidermalysis bullosa

113
Q

Microtubules

A

Cell scaffold
Movement of organelles
Mitotic spindle fibres
Cilia and flagella

114
Q

Macromolecules of the ECM

A

Proteoglycans

Fibrous proteins - collagen, elastin

115
Q

Collagen in basement membrane

A

Type IV

116
Q

Epithelial junction hierarchy

A 
Tight - prevent passage of molecules
Adherens - tether cells together
Desmosome - resist mechanical stress
Gap - allow passage of small molecules
Hemidesmosome - anchor epithelium to basal lamina
117
Q

Scalded skin syndrome

A

Caused by Staphylococcus

Bacterial proteases directed at desmosomal cadherins

118
Q

Pemphigus vulgaris

A

Autoantibodies against desmosomal cadherins

119
Q

Bardet-Biedl syndrome

A

Cilia disease

120
Q

Primary vs secondary cilia

A 
Primary = sensory antennae
Secondary = motile
121
Q

Microvilli

A

Formed by actin microfilaments

122
Q

Flagella

A

Microtubule based

123
Q

Catabolism vs anabolism

A 
Catabolism = synthesis
Anabolism = utilisation
124
Q

G1 phase

A

Replication of cellular contents

125
Q

S phase

A

Replication of chromosomes

126
Q

G2 phase

A

Double checking for errors and making repairs

127
Q

Prophase

A

DNA condensation
Nucleoli disappear
Nuclear envelope breaks down

128
Q

Metaphase

A

Chromosomes line up along the centre

Microtubules attach at the kinetochore of the centromere

129
Q

Anaphase

A

Pulling apart of chromosomes

130
Q

Telophase

A

Uncoiling of chromosomes

Reformation of nuclear envelope

131
Q

What normally holds sister chromatids together

A

Cohesin

132
Q

Cytokinesis

A

Cytoplasmic division

133
Q

When does crossing over occur in meiosis?

A

Prophase I

134
Q

Which CDKIs block S phase entry?

A

p16, p21, p27

135
Q

What does the retinoblastoma protein do?

A

Inhibits function of E2F proteins which control S phase entry, DNA synthesis and chromosome duplication

136
Q

Which CDK inactivates Rb?

A

CDK2

137
Q

1st cell cycle checkpoint

A

G1/S
Checks the cell has enough energy, nutrients and size to be able to divide
Checks for DNA damage before it is replication
Can send cells into G0 - quiescence

138
Q

2nd cell cycle checkpoint

A

G2/M

Can prevent cell division if DNA has been replicated incorrectly

139
Q

3rd cell cycle checkpoint

A

Metaphase

Checks tension of spindle fibres to ensure they have attached properly

140
Q

Anti-microtubule agents

A

Vinca alkaloids - prevent microtubule formation

Taxanes - prevent microtubule disassembly

141
Q

Caspases

A

Initiators and executioners of apoptosis
Initiator = 2,8,9
Executioner = 3,6,7

142
Q

Apo vs holoenzyme

A 
Apo = lacking cofactor - inactive 
Holo = with cofactor - active
143
Q

Vitamin B1

A

TTP for PDC

144
Q

Vitamin B2

A

Riboflavin for FAD

145
Q

Vitamin B3

A

Niacin for NAD

146
Q

Vitamin B5

A

Pantothenic acid for CoA

147
Q

Lyase enzymes

A

Add atoms
Remove atoms
Form a double bond

148
Q

Ligases

A

Use ATP to combine molecules

149
Q

Vmax

A

Maximum activity of an enzyme that occurs when the enzyme is fully saturated

150
Q

Km

A

Substrate concentration at which the reaction rate reaches half its maximal value

151
Q

Which inhibitor is time dependant?

A

Irreversible inhibitor

152
Q

Increased enzyme levels following myocardial infarction

A

Creatine kinase
Lactate dehydrogenase
Aspartate aminotransferase

153
Q

What percent of the body’s protein is collagen?

A

25%

154
Q

Type 1 collagen

A

Loose and dense CT
Fibrocartilage
Bone
Dentin

155
Q

Type 2 collagen

A

Hyaline and elastic cartilage

Vitreous body of the eye

156
Q

Type 3 collagen

A

Reticular fibres

Blood vessels

157
Q

Type 4 collagen

A

Basement membranes

158
Q

Osteogenesis imperfecta

A 
Defect in type I collagen synthesis
Fragile bones
Thin sclera
Thin skin 
Abnormal teeth
159
Q

Marfan syndrome

A 
Loss of stability given to elastin by fibrillin sheaths 
Tall stature 
Loose joints 
Floppy cardiac valves 
Eye problems
160
Q

Cell adhesion molecules

A

Integrins
Cadherins
Selectins

161
Q

Essential fatty acids

A

Alpha linolenic acid = omega 3

Linoleic acid = omega 6

162
Q

What do fatty acids male using COX enzymes

A

Prostaglandins, leukotrienes, thromboxanes

163
Q

Cholesterol with glycerophospholipids

A

More gel like

164
Q

Cholesterol with sphingolipids

A

More fluid

165
Q

Cholesterol is a precursor for…

A

Bile salts
Vitamin D
Steroids
Sex hormones

166
Q

GLUT transporter on the enterocyte

A

GLUT2 - facilitated diffusion

167
Q

Collagen amino acid seqence

A

Pro-Pro-Gly

168
Q

How do chaperones work?

A

Bind to hydrophobic residues to prevent hydrophobic driven folding
Create a unique environment for the protein
Use ATP

169
Q

D vs L form of sugars

A

D form = OH group on the right

L form = OH group on the left

170
Q

Heparin

A

Actvivats a thrombin inhibiotr and factor X - antithrombin III
Released from endothelial cells at sites of damage

171
Q

Interleukin responsible for eosinophil recruitment

A

IL-5

172
Q

Purines

A

A, G

173
Q

Pyramidines

A

T, C

174
Q

5’ end

A

Free phosphate

175
Q

3’ end

A

Free OH

176
Q

Linker histone

A

H1

177
Q

Direction of DNA synthesis

A

5’–>3’

178
Q

Topisomerase function

A

Prevents supercoiling of DNA

179
Q

Why is there a low level of mistakes in DNA replication?

A

3’ to 5’ editing of DNA polymerase

180
Q

Base excision repair

A

Back and backbone removed
DNA polymerase replaces base
Nick sealed by DNA ligase

181
Q

Nucleotide excision repair

A

Nuclease cuts section of 12 nucleotides
DNA helices removes it
DNA polymerase fills gap
DNA ligase seals nicks

182
Q

DNA mismatch repair

A 
MutS binds to error 
MutL finds nearest nick and drags it towards it to form a loop 
Strand removed 
DNA polymerase fills gap 
Sealed by ligase
183
Q

Non-homologous end joining

A

Double strands simply joined back together

Without missing nucleotides

184
Q

Homologous end joining

A

Homologous chromosome used to replicate missing sequence and ends joined together with missing copied nucleotides in between

185
Q

Faulty nucleotide excision repair

A

Xeroderma pigmentosum

Leads to skin cancer, UV sensitivity

186
Q

Faulty mismatch repair

A

MutS and MutL mutations

Leads to colon cancer

187
Q

Faulty homologous recombination

A

BRCA2

Leads to breast and ovarian cancer

188
Q

DNA methylation process

A

Addition of methyl groups to cytosine nucleotides at CpG islands
Done by DNA methyl transferase
Makes genes harder to transcribe

189
Q

Histone modifications

A

Affects how tightly packed chromatin is
Histone acetylase increases transcription
Histone deacetylase decreases transcription

190
Q

X inactivation

A

Silencing of one of the X chromosomes of females

191
Q

Nonsense mutation

A

Amino acid to stop codon

192
Q

Missense mutation

A

One amino acid to another

193
Q

Frameshift mutation

A

Disrupts the triplet code

194
Q

Autosomal dominant conditions

A

Huntingdon’s disease
Marfan syndrome
Neurofibromatosis
Achondroplasia

195
Q

Anticipation

A

Disease manifests at a younger age in successive generations

196
Q

Autosomal recessive conditions

A

Cystic fibrosis
Sickle cell anaemia
Thalassaemias

197
Q

X linked recessive conditions

A

Duchenne muscular dystrophy
Haemophilia
Colour blindness

198
Q

X linked dominant conditions

A

Vitamin D resistant rickets

199
Q

Number of genes

A

21000

200
Q

Percentage of human genome that codes for proteins

A

1.5-1.6%

201
Q

What does RNA pol 1 make?

A

rRNA

202
Q

What does RNA pol 2 make?

A

mRNA

203
Q

What does RNA pol 3 make?

A

tRNA

204
Q

Uracil

A

Modified thymine
Bonds to adenine
Only in RNA

205
Q

5’ cap

A

Addition of a modified guanine to the 5’ of the RNA

206
Q

3’ polyA tail

A

Addition of long chain of adenines to the 3’ end of the RNA

207
Q

Where does splicing occur?

A

Nucleus

208
Q

Start code

A

AUG

Methionine

209
Q

Stop codons

A

UAA
UAG
UGA

210
Q

Process of checking correct amino acid is added to tRNA

A

Done by RNA poly3

May need more than one step due to sizes of AAs

211
Q

Ribosome sites

A

A site - entry
P site - middle
E site - exit

212
Q

Internal ribosomal entry site

A

Not all translation starts from 5’ cap

213
Q

What happens when a stop codon is reached?

A

Release factors release peptide chain from final tRNA and the ribosome
Second release factor then dismantles ribosome

214
Q

Short vs long arm

A 
Short = p
Long = q
215
Q

G light vs dark band

A

G light = gene rich, GC rich

G dark = gene poor, AT rich

216
Q

On which chromosome are the MHC genes found?

A

6

217
Q

Robertsonian translocation

A

Two chromosomes joined at their centromere

218
Q

Trisomy 21

A 
Down syndrome
Hypotonia
Distinct facial appearance 
Learning difficulties
Heart malformations
219
Q

Trisomy 18

A

Edwards syndrome
Multiple malformations
Clenched hands with overlapping fingers

220
Q

Trisomy 13

A

Patau syndrome

Malformations particularly affecting midline structures

221
Q

Klinefelter syndrome

A 
47,XXY
Infertility
Poorly developed 2ndy sexual characteristics
Female shaped hips
Tall
222
Q

Turner syndrome

A

45,XO
Short stature
Primary amenorrhoea
Congenital heart disease

223
Q

Amniocentesis

A

15-18 weeks

Sample of amniotic fluid

224
Q

Chorionic villus sampling

A

12-14 weeks

Placenta tested

225
Q

Nuchal scan

A

11-14 weeks
For Down’s syndrome
Non-invasive

226
Q

pH of ECF

A

7.35-7.45

227
Q

Sources of acid

A

Aerobic respiration –> carbonic acid
Anaerobic respiration –> lactic acid
Incomplete fatty acid oxidation –> ketoacids
Hydrolysis of nucleic acid –> phosphoric acid

228
Q

Phosphate buffer system

A

Minot relevance in ECF

Important in kidneys

229
Q

Haemoglobin buffer system

A

HB + H+ –> HHb
Loads in tissues
Releases at lungs

230
Q

Major blood buffers

A

Bicarbonate

Haemoglobin

231
Q

Renal compensation

A

Can excrete or conserve bicarbonate or hydrogen ions

232
Q

Respiratory acidosis

A 
Low pH, high CO2, high bicarb
Hypoventilation 
COPD
Respiratory centre depression
Sepsis
233
Q

Respiratory alkalosis

A 
High pH, low CO2, low bicarb
Hyperventilation 
Stress
Elevated body temperature
Overventilation
234
Q

Metabolic acidosis

A

Low pH, low bicarb, low CO2
Increased acid production or retention - renal failure, starvation, lactic acidosis, diabetes
Bicarbonate loss - chronic diarrhoea

235
Q

Metabolic alkalosis

A

High pH, high bicarb, high CO2
Increased bicarb - carbohydrate retention
Loss of organic acids - repeated vomiting

236
Q

Anion gap

A

Difference between cations and anions
Normal = GI bicarb loss, renal loss
High = lactic acidosis, ketoacidosis, renal failure

237
Q

Gibbs-Donnan effect

A

Presence of a charged impermeable ion on one side of the membrane

238
Q

Voltage gated sodium channel

A

Activation gate - opens in depolarisation fast

Inactivation gate - closes in depolarisation slowly

239
Q

Voltage gated potassium channel

A

Opens in response to depolarisation
Opens slowly
Dont inactivate
Produce hyperpolaristion

240
Q

Stages of AP

A
  1. Resting - Na and K channels closed
  2. Na channel opens
  3. K channels open, Na channels starting to close
  4. Hyperpolarisation - K channels open, Na closed
241
Q

Absolute refractive period

A

Cannot open regardless of applied stimulus
During depolarisation
1-2ms

242
Q

Relative refractive period

A

Larger stimulus required to produce action potential
While membrane is hyperpolarised
3-15ms

243
Q

Effect of diameter on conduction velocity

A

Cytoplasmic resistance decreases with increased diameter

Faster conduction

244
Q

Effect of myelination on conduction velocity

A

Membrane resistance increases with insulation

Faster conduction

245
Q

Temporal summation

A

APs occur in rapid succession and combine to reach threshold

246
Q

Spatial summation

A

Multiple APs from different synapses

247
Q

Meissner corpusle

A

Light touch

248
Q

Merkel cells

A

Pressure

Texture

249
Q

Pacinian corpulscle

A

Vibration

250
Q

Ruffini endings

A

Skin stretching

251
Q

Origins of sympathetic nerves

A

T1-L2

252
Q

Myenteric ENS plexus

A

Between circular and longitudinal muscle layers

Controls motility

253
Q

Submucosal ENS plexus

A

Between submucosa and circular muscle

Controls secretion and muscularis mucosae motility

254
Q

Sacral parasympathetic nerve roots

A

S2-4

255
Q

Sympathetic nerves with paravertebral ganglia

A

T1-4

256
Q

Sympathetic nerves with prevertebral ganglia

A

T5-L2

257
Q

Total body water

A

60% body weight

42L

258
Q

Extracellular colume

A

1/3 TBW

14L

259
Q

Intracellular volume

A

2/3 TBW

28L

260
Q

Interstitial fluid volume

A

10.5L

261
Q

Plasma volume

A

3.5L

262
Q

Red blood cell volume

A

1.5L

263
Q

Cells other than RBC volume

A

26.5L

264
Q

Transcellular fluid

A

1L
CSF
Synovial fluid

265
Q

What does tonicity depend on?

A

Solutes that cannot cross the membrane freely

266
Q

Obligatory water loss

A

500ml/day

1 - FINALS (6 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions