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Phase 1 > IMMS > Flashcards

IMMS Flashcards

1
Q

Mitosis

A

Produces two genetically identical daughter cells
Prophase, prometaphase, metaphase, anaphase, telophase

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2
Q

Prophase

A

Nuclear membrane starts to disintegrate
Chromatin condenses into chromosomes
Chromosome microtubules move to poles

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3
Q

Prometaphase

A

Nuclear membrane dissolves
Spindle fibres form (microtubules) and attach to centromere

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4
Q

Metaphase

A

Homologous chromosomes line up down midline

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5
Q

Anaphase

A

Chromatids pulled to opposite piles as spindle fibres contract

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6
Q

Telophase

A

Nuclear membrane reforms
Chromosomes condense into chromatin
Spindle fibres disintegrate

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7
Q

Cytokinesis

A

Cytoplasm divides

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8
Q

Telomere

A

Region of receptive nucleotide sequences at end of chromosome for protection
Get shorter with each division
Built back with telomerase - enables unlimited cell division in cancer

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9
Q

Centrosome

A

2 centrioles, each made of microtubules - cell structure and separate chromatids

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10
Q

Meiosis

A

Produces 4 haploid cells haploid cells from two divisions ( only occurs in gametes )
Prophase 1 - crossing over
Metaphase 1&2 - independent segregation
PMAT -> PMAT ( NO INTERPHASE - not a cycle)

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11
Q

Interphase

A

G1 - 2 x organelles
S - 2 x DNA & histones
G2 - chromosomes condense
Mitosis

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12
Q

Karyotyping

A

Full set of metaphase chromosomes

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13
Q

Heritability

A

% of an aetiology due to genetics - concordance of MZ twins

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14
Q

Allelic polymorphism

A

> allele for gene in population, most common is SNP

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15
Q

Locus heterogeneity

A

Variants in different genes

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16
Q

Allelic heterogeneity

A

Variants in same genes

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17
Q

Allelic homogeneity

A

Same variant in same gene

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18
Q

Acquired

A

1 malignant tissue in life, not heritable

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19
Q

Constitutional

A

All body cells including gonads - heritable :
De novo in gametogenesis or inherited

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20
Q

Haploinsufficiency

A

Single wt allele not sufficient to produce wt phenotype

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21
Q

Variable expressivity

A

1 genotype -> range of phenotypes ( severity)

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22
Q

What percentage of our DNA is coding

A

1.5%

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23
Q

Longest and shortest chromosomes

A

;
N1 = longest
N22 = shortest

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24
Q

Robertsonian chromosomes

A

13,14,15,21&22
They lack a short arm (p arm)
Can be involved in specific types of translocation

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25
Q

The human genome

A

All of the genes and non coding DNA in the human body

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26
Q

Nucleosome

A

Eight his tone proteins around which DNA wraps 1.65 times

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27
Q

Chromatosome

A

A nucleosome plus the H1 histone

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28
Q

Genomes in the body

A

Germline - in sperm and eggs
Somatic - found in every other tissue
Mitochondrial- only found within the mitochondria
Only changes in the germline or mitochondrial genome can be passed from patent to child

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29
Q

Chromosome translocation

A

Part of one chromosome on another
Balanced - no loss of genetic material so person is healthy
Unbalanced - loss or gain of genetic material which can cause a human disease

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30
Q

Mutagenesis ( mutagen)

A

Alteration to the genomic code by exposure to a substance
Can be in the womb or post-natal ( e.g. in carcinogenesis)

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31
Q

Teratogenesis ( teratogen)

A

A damaging effect on embryonic/foetal development by an exposure to a substance
Different mechanisms : virus causing cell death, toxin interrupting blood supply
Some teratogens are also mutagens

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32
Q

Monogenic (Mendelian)

A

Mutation in a single gene is sufficient to cause disease

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33
Q

Somatic disease

A

Disease causing mutations are found in the affected tissue ( cancer)

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34
Q

Mitochondrial

A

Disease is caused by mutations in the mitochondrial membrane

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35
Q

Malformation

A

Intrinsic issue with development of an organ/tissue - commonly genetic
Minor - more than 2 then you should consider an underlying genetic condition
Major - should consider an underlying genetic condition

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36
Q

Deformation

A

Extrinsic factors impinge upon development of an organ (e.g.compression) - less commonly genetic

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37
Q

Autosomal dominant inheritance

A

Disease occurs in the heterozygous state ( one gene abnormal variant and one gene is normal)

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38
Q

Recurrence risk file autosomal dominant inheritance

A

Affected person has a 1/2 chance of having an affected child

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39
Q

Variable expressivity

A

People with the same gene variant can have a wide range of symptoms or physical features

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40
Q

Autosomal recessing inheritance

A

Disease occurs in homozygous state ( genetic variant in both copies of a gene )
Tends to be loss of function

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41
Q

Cystic fibrosis

A

Commonest recessive condition affecting Northern Europe population
Incidence - 1 in 2500
Carrier frequency - 1/25
CFTR gene on chromosome 7

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42
Q

Carrier frequency of sickle cell

A

1/10

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43
Q

Carrier frequency of Tay-sachs disease

A

1/30

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44
Q

Carrier frequency of congenital adrenal hyperplasia

A

1/35

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45
Q

Carrier frequency of Connie in-26 (deafness)

A

1/30-40

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46
Q

Penetrance

A

Percentage of individuals who have a variant in a certain gene who develop a medical condition because of it
Not everyone with a gene variant will develop the medical condition

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47
Q

Age related penetrance

A

The percentage of individuals who have a variant in a certain gene who develop a medical condition at a given age

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48
Q

Anticipation

A

A genetic condition manifests in successive I. Generations earlier with more severe symptoms

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49
Q

De novo mutations

A

The disease causing genetic variant occurs in either the spermicide or the egg
An u affected parent has a child with an autosomal dominant condition

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50
Q

X-linked recessive

A

Females are uaffected carriers, only males are affected

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51
Q

X-linked recessive

A

Females are unaffected carriers, only males are affected

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52
Q

X-linked dominant

A

Both males and females are affected

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53
Q

Male-male transmission

A

An affected man having an affected son.
If this happens in a family tree it means that the condition is not x-linked

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54
Q

Duchenne muscular dystrophy can

A

Mutation in the dystrophin gene on the x-chromosome
Absence if dystrophin protein in skeletal muscle
Limb weakness in males
Eventual use of a wheelchair

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55
Q

Skewed x-inactivation

A

80% of cells show preferential inactivation of one x-chromosomes ( should be around 50:50)
Can do on blood or affected tissue ( e.g. muscle)

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56
Q

Non-Mendelian inheritance

A

A disease is not explained by a dominant, recessive or x-linked mode of inheritance

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57
Q

Multifactorial inheritance

A

More than one factors causes trait Combination of genetic and environmental. Main cause of disease in developed countries. E.g. spina bifilar cleft palate, diabetes, schizophrenia
Risk of condition in relatives ( greatest for first degree relatives) of an affected individuals is dramatically higher than the general population

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58
Q

Somatic mosaicism

A

The accumulation of genetic variants in somatic cells after fertilisation. It may develop at any point after fertilisation, including adult life.

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59
Q

Germline mosaicism

A

Also known as gonadal mosaicism, this is the presence of two populations of cells within the gonad that differ genetically. (some gametes have a genetic variant and some do not )

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60
Q

Mosaic

A

Not every cell in a organism has the same genetic code

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61
Q

Mitochondrial disease

A

Symptoms occur because of a lack of energy (ATP) to drive cellular functions). All of our mitochondria are derived from our mother. A male with a mitochondrial disorder cannot have an affected child. Only ova are large enough to contain significant numbers of mitochondria.
The greater proportion of mutant mitochondria the more likely disease.

62
Q

Homoplasmy

A

All mitochondria in call have same genetic code

63
Q

Heteroplasmy

A

Certain proportion of mitochondria in a cell has a genetic variant

64
Q

Imprinting disorders

A

All have two copies of each autosomal gene. For certain genes either the maternal or paternal copy is “switched off” these are printed genes.
Disease can be caused when imprinting is altered and genes are “switched on “ or “switched off“ inappropriately.

65
Q

Inframe change of nucleotides

A

Multiples of three. Lose or gain single amino acid

66
Q

Out of frame nucleotide insertion or deletion

A

Leads to formation of premature stop codon. Nonsense mediated decay

67
Q

Single nucleotide variants

A

Change of one nucleotide ( wild-type) to another nucleotide (mutant)
Synonymous ( no alteration to protein)
Non-synonymous ( alters protein)

68
Q

What suggests a variant is pathogenic?

A

The variant is found in several people in the family who have the disease ( segregation)

69
Q

What suggests a variant is benign ?

A

The variant is found in an unaffected parent.
The variant is found commonly in healthy populations
computational tools predict the variant has no effect on gene function

70
Q

Predictive genetic testing

A

Individual without symptoms requests test for highly penetrant genetic variant causing a disease

71
Q

Predictive genetic testing

A

Individual without symptoms requests tests for highly penetrant genetic variant causing a disease.
In mentally competent adults this can be seen to promote their autonomy.
Provided there is no evidence of coercion by a third party etc

72
Q

Mitochondrial matrix

A

Site of the kerbs cycle

73
Q

Mitochondrial crista

A

Site of electron transport chain and chemiosmosis

74
Q

Mitochondrial inner membrane

A

ATP synthesis embedded allows flow of H+ from ETC for ATP synthesis

75
Q

Mitochondria

A

Site of respiration and ATP formation

76
Q

Site of protein synthesis

A

Ribosomes

77
Q

Rough ER

A

Synthesis and processing of proteins

78
Q

Smooth ER

A

Contains enzymes for lipid synthesis

79
Q

Golgi apparatus

A

Processing and packing proteins

80
Q

Cytoskeleton

A

Structural support and movement of materials

81
Q

Nucleus

A

Contains genetic information and assembles ribosome subunits

82
Q

Lysosomes

A

Contains acid hydrolyses for digestion and recycling

83
Q

Peroxisomes

A

Fatty acid and ethanol oxidation, contains catalase

84
Q

Phospholipid

A

Hydrophilic polar head
Hydrophobic non-polar fatty acid tail

85
Q

What are the contents of a phospholipid belayer with a fluid mosaic model

A

Cholesterol - binds together phospholipids
Proteins - transporters
Glycolipids and glycoproteins - cell signalling

86
Q

Functions of a phospholipid belayer with a fluid mosaic model

A

Partially permeable membrane
Site of membrane receptors
Regulates what enters and exits cell
Barrier to separate intracellular contents from extra cellular contents

87
Q

Protein types in a cell membrane

A

Consists of around 60% protein
Integral proteins - a-helix (recognition,receptors ), helical bundle ( enzymes, transporters, receptors ) and b-barrel ( transporters (channel proteins))
Peripheral proteins - ( enzymes, anchorage, transporters (carriers))

88
Q

Autocrine communication

A

Messenger molecules bond with receptors in the cell where they are produced
E.g. chemical/secondary messages

89
Q

Paracrine communication

A

Messengers in ECF
E.g clotting factors, prostaglandins in childbirth, inflammatory mediators

90
Q

Endocrine communication

A

Secretions into blood
E.g. insulin

91
Q

Positive feedback

A

Amplification of signal
E.g. clotting cascade, oxytocin and labour

92
Q

Negative feedback

A

The basis of homeostasis
E.g. the majority of endocrine hormones

93
Q

3 types of hormones

A

Peptide, steroid, amino-acid derivative

94
Q

Peptide hormones

A

Made from short chain amino acids
Stored in cell and releases when needed/signalled
Binds to receptor on membrane
Produces a quick response via a secondary messenger cascade
E.g. insulin, growth hormone, TSH, and ADH

95
Q

Steroid hormones

A

Synthesised from cholesterol,
Different enzymes modify molecules to produce a variety of hormones.
Can’t dissolve in water
Can dissolve in lipids
Produce a slow response as directly affects dna

96
Q

Amino acid derives hormones

A

Synthesised from tyrosine, acts in same way to peptide
E.g. adrenaline, thyroid hormones

97
Q

Metabolism

A

The sum of the chemical reactions that take place within each cell
Chemical reactions occur in sequence

98
Q

Via what pathways are diary components metabolised

A

Biosynthetic
Fuel storage
Oxidative processes
Waste disposal

99
Q

Anabolic

A

Synthesis larger molecules from smaller components

100
Q

Catabolic

A

Break down larger molecules into smaller components

101
Q

Catabolism

A

Provides energy from fuel molecules via the ATP cycle

102
Q

BMR rough estimate

A

= 1 kcal / kg body mass / hour

103
Q

What factors lower bmr

A

Age
Sex
Dieting/ starvation
Hypothyroidism
Decreased muscle mass

104
Q

What factors raise bmr

A

BMI
Hyperthyroidism
Low ambient temp
Fever/infection/ chronic disease

105
Q

Basal metabolic rate

A

Energy needed to stay alive at rest
Energy used for :
Respiration
Cardia contraction
Biosynthetic processes
Tissue repair and regeneration
Io gradients across cell membranes

106
Q

Malnutrition

A

Sate of nutrition with a deficiency, excess or imbalance of energy, protein or other nutrients causing measurable adverse effects ( on tissue, body shape / size / composition, body function and clinical outcome.

107
Q

Starvation

A

Overnight fast
Drop in insulin secretion
Glycogenolysis
Brain requires approx 150 g glucose a day
After an overnight fast, liver has about 80 g glycogen
Longer fasts necessitate gluconeogenesis ( make glucose from non-CHO sources)

108
Q

Gluconeogenesis

A

Drop in insulin secretion
Rise in cortisol secretion
Gluconeogenesis uses :
Lactate
Amino acids ( muscle, intestine, skin breakdown)
Glycerol ( fat breakdown)
Liver creates keystones from fatty acids

109
Q

The prudent diet

A

5 + servings of fruit/ vegetables
Base meals around starchy carbohydrates
No more than 5% energy should come from free sugars
0.8g/kg/ day protein

110
Q

Oxidative metabolism

A

Linked pathways for breaking down nutrients to generate energy

111
Q

Glycolysis

A

Breakdown of glucose inside cells

112
Q

Gluconeogenesis

A

Synthesis of new glucose molecules form non-carbohydrate precursors ( e.g. lactate) in hepatocytes

113
Q

Glycogenolysis

A

Conversion of excess glucose to glycogen, it’s storage form in hepatocytes and muscle tissues

114
Q

ATP

A

The currency of metabolic energy
A high energy molecule composed of adenine ( purine base), ribose and three phosphate groups

115
Q

Where and why does glycolysis occur

A

Occurs in cytosol under anaerobic conditions
An emergency energy producing pathway when oxygen is limiting
- RBCs and exercising skeletal muscle
Generates precursors for biosynthesis

116
Q

Glycolysis - overview

A

One molecule of glucose is broken down to produce :
2 molecules of pyruvate ( C3H4O3). 2 NADH + H+ and 2ATP

117
Q

Nucleus

A

Contains dna in the form of chromatin ( tightly wound around histone proteins )

118
Q

Heterochromatin

A

Tight coils, repressed

119
Q

Euchromatin

A

Loose coils, expressed

120
Q

Mitochondria

A

ATP synthesis

121
Q

SER

A

Membrane lipid synthesis, protein storage
Phase 1 detoxification

122
Q

RER

A

Increases ribosomes ( protein synthesis)

123
Q

Golgi

A

Cis - receives protein/lipid vesicles
Medial - adds sugars to these
Trans - package modified molecules into vesicles, exocytosed

Perinuclear hoff = plasma cells’ golgi; otherwise hard to see in other cells

124
Q

Lysosomes

A

Degrades protein and cell autolysis
Ph 5 maintained by H+/K+ ATPases

125
Q

Perioxisomes

A

Beta oxidation of fatty acids
Produces (znd destroys ) h2o2
Removes H from lipid/ alcohol/ toxic substances

126
Q

Membrane protein carriers

A

Uniport - single substance
Glucose via glut-1
Passive
Antiport - two substances in opposite directions
3na+/2k+ ATPase
Energy from atp hydrolysis
Symport - two or more substances in the same direction
Na+/glc nutrient transport
Indirectly from atp hydrolysis
Ion gradient used

127
Q

G coupled receptors

A

Extracellular binding activates transduction pathway internally
Cascade of internal reactions

128
Q

Membrane channel proteins

A

Ligand gated ( depends on ligand binding to open )
Voltage gated
Mechanical, gated ( open when stretched)

129
Q

Tight cell junctions

A

No passage
Cells sealed like a sheet
E.g. in gi tract, BBB

130
Q

Adherins

A

Adjacent actin ( smaller) bundles of cells joined

131
Q

Desmosomes

A

Adjacent intermediate filaments ( bigger) joined

132
Q

Gal junctions

A

Allow adjacent cell passage of ions ( from cell to cell )
Key in myocardium contraction ( contracts as a synctium - need all to contract at the same time)

133
Q

Hemidesmosomes

A

Intermediate filament to extracellular matrix

134
Q

Focal adhesion

A

Actin to extracellular matrix

135
Q

Diffusion and osmosis

A

Down conc gradient

136
Q

Fac diffusion

A

Down conc gradient with protein

137
Q

Active transport

A

Primary - na+-k+ atpase pumps
Secondary - indirect ; cotransport

138
Q

Exocytosis

A

Vesicles bud off csm ( too big / hydrophilic for diff)

139
Q

Endocytosis

A

Intake of molecules in phagosome vacuole

  1. Phagocytosis - eating, engulfing whole cells
  2. Pinocytosis - drinking, engulfing dissolved.
  3. Receptor mediated
140
Q

Three modes of homeostasis communication

A

Autocrine - acts on the same cell, secretion into ecf
Paracrine - secretion into ecf, acts on neighbouring cell
Endocrine - secretion into blood, acts in distant cell ( “target”)

141
Q

Peptide hormones

A

Made from several aa
Water soluble ; directly in blood e.g. adh, insulin
Binds to csm surface
Fast acting
Pre-made and stored

142
Q

Steroid hormones

A

Made from lipid cholesterol
Lipid soluble ; transport proteins in the blood
Diffuses through csm
Slow acting
Not pre-made
E.g. oestrogen, testosterone

143
Q

RAAS ( renin angiotensin aldosterone system )

A

Activated when there is drop in BP ( Juxtaglamerular cells in Afferent arteriole in the kidney)
Or drop in Nacl ( detected by macula dense cells of the distal convoluted tubule ) x renin release from justaglameular cells

Angiotensinogen - ( by renin) - angiotensin 1 - ( ace) - angiotensin II - ADH, aldosterone, sympathetic NS

144
Q

Osmolarity

A

Conc. / litre solution

145
Q

Osmolality

A

Con./ kg solution

146
Q

Oncotic pressure

A

Albumin pressure on capillary wall keeping fluid in

147
Q

Osmotic pessure

A

Pressure exerted by pure solvent on solution needed to prevent inward osmosis ( solvent -> solution )

148
Q

Hydrostatic pressure

A

Fluid pressure wants to move out of capillary

149
Q

Glycolysis regulation

A
  1. Hexokinase activity controlled by ( G6P)
  2. PFK allostencally
    - effected by AMP ( MORE AMP = MORE PFK ACTION )
    - inhibited by ATP
150
Q

Two glycolysis steps that produce ATP

A

1-3 bisphosphate - 3 phosphoglycerate

Phosphoenol pyruvate - pyruvate

Phase 1 (8 decks)

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