Topic 2 - Genes + Health Flashcards

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1
Q

Lungs

A

Lungs allow rapid gas exchange between the atmosphere and blood.

One bronchus extends into each lung, they branch into smaller air pathways called bronchioles. They each connect to alveolar ducts, that connect directly to alveoli (sites of gas exchange).

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2
Q

Epithelial cells

A

They line the outer surface of many animals. They line cavities and tubes within animals along with covering sufaces of internal organs.

Basement membrane attaches epithelium to connective tissue below.

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3
Q

Basal membrane

A

Membrane surface of epithelial cell that faces basement membrane

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4
Q

Apical membrane

A

Membrane surface of epithelial cell that faces away frkm the basement membrane

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5
Q

Types + location of epithelial cells

A

Squamous = epithelium in walls of alveolus

Columnar = epithelium in small intestine

Ciliated = found in airways, lungs

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6
Q

Role of cilia, no CF

A

Mucus is swept by a beating of cilia into the mouth cavity where it is either coughed or swallowed (stomach acid can kill it)

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7
Q

Cilia, with CF

A

People with CF produce stickker mucus, cilia cannot move this so jt builds up in airways

Pathogens can be trapped in sticky mucus and cause diseases
- white blood cells can fight infection but when they die they release DNA - making mucus stickier

  • Low O2 levels in mucus as it diffuses slower due to thickness
  • epithelial cells use more O2 as cilia are working harder, requiring more energy.
  • anerobic environments perfect for bacteria to thrive
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8
Q

SA:V

A

Surface area ÷ volume

As an organism increases in size:
- Surface area increases by factor of 4
- Volume increases by factor of 8
SA:V VALUE DECREASES BY A HALF

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9
Q

Unicellular organism’s exchange surface

A

The whole cell surface membrane is the exchange system

Substances that diffuse into or out of cell move down the concentration gradient (high to low)

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10
Q

Multicellular (larger) organism’s exchange surface

A

Require more gas exchange in order to meet metabolic needs, harder for them to absorb substances due to the size of their surface compared to their volume

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11
Q

Why cant large organisms rely on simple diffusion

A

Inner most tissues would be too far from gas exchange site meaning it would not be fast enough.

Organism would die, dehydrate

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12
Q

Gas exchange system features

A

Large surface area from alveoli

Numerous capillaries associated with each alveolus

One cell thick capillaries and thin alveoli walls reduces distance of air in the alveolus and blood in the capillaries

Cocentration gradient maintained by constant blood flow

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13
Q

Fick’s law

A

Rate of diffusion = (Surface area x concentration gradient) ÷ thickness of exchange system

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14
Q

Surface area

A

Directly proportional to rate of diffusion

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15
Q

Concentration gradient

A

Directly proportional to the difference in concentration across the exchange system

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16
Q

Thickness of gas exchange system

A

Inversely proportional to the thickness of the gas exchange system

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17
Q

Amino acid structure consists of

A
amine group (-NH2)
carboxylic acid group (-COOH)
Hydrogn group (-H)
Residual group (R)
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18
Q

Primary structure of protein

A

The sequence of amino acids in a polypeptide chain

  • Amino acids join in condensation reaction to form dipeptide
  • Peptide bond formed between two subunits
  • Process continues till polypeptide chain is formed
  • Proteins consist of two or more polypeptide chains
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19
Q

Secondary structure of protein

A

Protein folds and coils

  • Interactions between R groups of amino acids in polypeptide chain cause it to fold and coil
  • They either coil into a-helices or b-pleated sheets

Within a protein molecule there may be sections of both a-helic and b-pleated, and some that are not twisted in any ordered manner

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20
Q

a-helix (secondary structure)

A

Regularly spaced hydrogen bonds form between amine and carbolxylic groups on different amino acids in the polypeptide chain

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21
Q

b-pleated sheets (secondary structure

A

Amino acid chains may fold back on themselves or may kink together with the hydrogen bonds holding the parallel chains

Each hydrogen bond is weak but cumulative effect makes structure stabel

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22
Q

Tertiary structure of protein

A

Protein folds into more precise 3D shape

Chemical bonds and hydrophobic reactions between R groups maintain final tertiary structure

Depression (active site) formed in tertiary structure

Reactions between R groups:
Polar R groups attract other polar molecules

Some amino acids have ionised R groups so ionic bonds can form between + and - R groups

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23
Q

Quaternary structure of protein

A

Protein has more than one polypeptide chain

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24
Q

Conjulated proteins

A

Contains other chemical group within their polypeptide chain

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25
Q

Globular protein

A

Polypeptide folded compactly into spherical shape

Soluble as hydrophillic side chains project on the outside of the molecule

3D structure vital for binding to other substances, such as enzymes and antibodies

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26
Q

Fribrous proteins

A

Do not fold, remain as long chains

Insoluble proteins

Several polypeptide chains can be cross-linked for strength

Keratin in hair, collogen in bone and tendons

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27
Q

Phospholipid bilayer

A

Structure of cell surface membrane

Basic structure = two layers of phospholipids

2 fatty acids, 3rd replaced by negatively charged phosphate group

Phosphate heads are polar, hydrophillic

Fatty acid tails are non-polar, hydrophobic

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28
Q

Why do phospholipids arrange themselves in the bilayer

A

Cells are filled with aqueous cytoplasm and aqueous tissue fluid

Cell surface phospholipids adopt most suitable structure - bilayer

Hydrophobic fatty acid tails have no contact with water on either side of the membrane

Hydrophillic phosphate heads are constantly in an aqueous environment

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29
Q

Fluid mosaic model

A

Model refers to arrangement of proteins in cell surface membrane

Suggests some proteins are fixed witin the membrane, but some are not and are free to move in the fluid bilayer

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30
Q

Evidence 1 (fluid mosaic model)

A

Experiment showed two types of proteins:

  • Those that can be easily separated from membrane by increasing ionic conc of solution
  • Those that required more drastic measures like detergents

This supports the model:
Peripheral proteins are loosely attached to the outer surface membrane
Integral proteins are fully embedded in the phospholipids

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31
Q

Evidence 2 (fluid mosaic model)

A

Evidende for integral proteins = freeze fracture electron microscopy studies

1) Frozen membrane sections were fractured along weak points between lipid layers
2) Inner fractured surface was coated in heavy metal

Smooth mosaic surfaces were revealed, interspersed with large integral proteins

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32
Q

Evidence 3 (fluid mosaic model)

A

Mouse/human cell fusion:
1) specific membrane protein in each cell was marked by a colour before fusion

2) light mìcroscope was used to follow protein movement, after fusion no immediate movement
3) after 40 mins at 37°c there was complete intermixing of proteins
4) only way to mix was by diffusion, showing membrane had fluid components

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33
Q

Unsaturated phospholipids + bilayer fluidity

A

More phospholipids with unsaturated fatty acids, more fluidity

Kinks in the hydrocarbon tails of unsaturated phospholipids prevent them packing closely together - more movement possible

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34
Q

Cholesterol + bilayer fluidity

A

Cholesterol between phospholipids maintains fluidity of membrane by affecting movement of phospholipids

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35
Q

Diffusion

A

Passive, no metabolic energy required

Net movement of molecules or ions from a region of high conc to a region of low conc.

Concentration gradient - difference in concentration between two areas, diffuse occurs where there is a gradient

Un-charged molecules like O2 ca diffuse across membrane

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36
Q

Osmosis

A

Net movement of water molecules from an region of high conc to region of low conc through partially permeable membrane

  • If solute is present, H20 will form bonds with them reducing the movement of the water
  • More solute means fewer molecule collions and less movement across membrane

Osmosis continues till isotonic conditions are met

37
Q

What cannot diffuse through the membrane

A

Polar (hydrophillic) molecules and ions larger than CO2

38
Q

Facilitated diffusion

A

No metabolic energy needed

  • Ions can diffuse across within channel proteins, which have specific shape allowing molecule to pass
  • Gated channels open and close depending on signals
  • Ions/molecules can bind to specific site on carrier proteins, protein changes shape allowing substance to diffuse actoss

-

39
Q

Active transport

A

Energy required when moving substances again concentration gradient, specific carrier proteins used

  • Energy supplied from ATP (adenosine triphosphate)
  • Substance to be moved across binds to carrier protein
  • One phosphate is removed from ATP by hydrolysis forming ADP

Small amount of energy needed when breaking bonds between ATP and phosphate group

  • Phosphate group is then hydrated

Energy released as bonds form between phosphate group and water

  • This energy changes carrier protein shape, substance is released on the other side of membrane

Moving substance against the concentration gradient

40
Q

Active transport

A

Energy required when moving substances again concentration gradient, specific carrier proteins used

  • Energy supplied from ATP (adenosine triphosphate)
  • Substance to be moved across binds to carrier protein
  • One phosphate is removed from ATP by hydrolysis forming ADP

Small amount of energy needed when breaking bonds between ATP and phosphate group

  • Phosphate group is then hydrated

Energy released as bonds form between phosphate group and water

  • This energy changes carrier protein shape, substance is released on the other side of membrane

Moving substance against the concentration gradient

41
Q

Exocytosis

A

Bulk transport of substances out of cell

Vesicles fuse with the cell surface membrane releasing their contents

42
Q

Endocytosis

A

Bulk transport of substances into the cell

Vesicles are created from the cell surface membrane bringing substances into the cell

43
Q

Water content regulation achieved by

A

Transport of sodium and chloride ions across the epithelial cells

Water then follows by osmosis

44
Q

Excess water in mucus

A

1) Sodium ions are constantly pumped across the basal membrane
2) Sodium ions diffuse across sodium channels in the apical membrane
3) Chloried ions diffuse down electrical gradient
4) Water is drawn out of cells by osmosis due to high salt content in fluid
5) Water is drawn out of mucus by osmosis

45
Q

Too little water in mucus

A

1) Chloride ions are pumped into cell across basal membrane
2) Chloride ions diffuse across open CFTT channels
3) Sodium ions diffuse down electrical gradient into mucus
4) Elevated aalt conc in mucus drains water out of cell by osmosis
5) Water is drawn into cell by osmosis

46
Q

Regulating water content with CF

A

1) CFTR channel is absent or not functioning, chloride ions cannot be secreted across apical membrane
2) Epithelial sodium ion channels are open, sodium ions are constantly absorbed from mucus by epithelial cells
3) High levels of sodium ions drains chloride ions and water from mucus into cell by osmosis
4) Makes mucus more viscous, water is constantly being removed

47
Q

Digestive system

A

Groups of pancreatic cells produce enzymes that help breakdown carbohydrates + lipids. These enzymes are released through the pancreatic duct and delivered to the gut in pancreatic juice

48
Q

Digestive system with CF

A

Pancreatic duct blocked by mucus

  • Digestive enzymes cannot be released
  • Low conc of enzymes in small intestine
  • Low rate of digestion

Food not fully digested = higher % of undigested food in feces meaning energy is lost - leads to malabsorption syndrome

Enzymes trapped in mucus in the duct can lead to a form of diabetes

49
Q

Enzymes

A

Enzymes are biological catalysts that speed up the rate of reactions, they are globular proteins.

Specific 3D shape, has a depression on the surface of the molecule, known as the active site.

Only a few amino acids may be involved in the active site.

The active site of an enzyme has a particular shape in which only a specific substrate can fit in.

50
Q

Lock and key theory

A

Only one molecule with complimentary shape, or two molecules that join to form a complimentary shape can fit into the active site.

Substrate molecules form a temporary bond with the amino acids in the active site to produce an enzyme substrate complex.

When the reaction has occurred, the products are released leaving the enzyme unchanged.

Each enzyme will only catalyse one specific reaction

51
Q

Activation energy

A

Energy needed at the start of a reaction to break

52
Q

Activation energy + enzymes

A

In cells, enzymes reduce the amount of energy needed to start reactions so they can occur at lower temperatures.

Attraction of oppositely charged groups on enzyme active site and complimentary substrate distort shape of substrate and assist in breaking or forming bonds.

53
Q

Induced fit theory

A

Active site is slightly flexible, when substrate enters the active site the enzyme molecule changes shape slightly, fitting closely around substrate.

Only a specific type of substrate can induce the correct change in the enzymes active site.

54
Q

Metabolism

A

The metabolism of an organism is the sum of all the enzyme catalysed reactions occurring within it.

55
Q

Anabolic reactions

A

‘Building up’ reactions

e.g synthesis of glycogen from glucose

56
Q

Catabolic reactions

A

‘Breaking down’ reactions

e.g enzyme breaking down substrates

57
Q

Enzyme conc + rate of reaction

A

Initial rate of reaction is directly proportional to enzyme concentration.

The more enzymes present, the more active sites available to form enzyme substrate complex.

More enzymes mean more successful enzyme/substrate collisions.

Substrate in excess.

58
Q

Substrate conc + rate of reaction

A

High substrate concentration means the enzyme concentration is limiting the rate of reaction.

The active sites are full and substrates cannot enter an active site until it is free.

59
Q

Effect of CF on reproductive system

A

Females have a reduced chance of becoming pregnant. Mucus plug can develop in the cervix preventing sperm from reaching the egg.

It can make a male lack vas deferens (sperm duct) on both sides so sperm cannot leave the testes.

If vas deferens is present however, it can be blocked by a thick sticky layer of mucus. Means fewer sperm is present in each ejaculate.

60
Q

Genes

A

Gene: sequence of bases on DNA molecule coding for sequence of amino acids in a polypeptide chain. It is a section of a DNA strand.

Genes make up a fraction of the DNA in chromosomes.

61
Q

DNA

A

DNA= deoxyribonucleic acid. It is a long chain polymer made up of units called nucleotides or mononucleotides.

62
Q

Mononucleotides consist of:

A

Deoxyribose (5-carbon) sugar.
Phosphate group.
Nitrogen containing base.

Only the base is variable between 4 types: 
Adenine 
Cytosine 
Guanine 
thymine
63
Q

DNA molecule structure

A

Two polynucleotide strands twist to form double helix.

Sugar and phosphate groups form two sugar-phosphate backbones and are on the outside.

Base faces inwards horizontally and are held in pairs by hydrogen bonds.

Two nucleotide strands are described as antiparallel as they run in opposite directions.

64
Q

Why does A pair with T and G with C

A

Adenine pairs with thymine. (2 Hydrogen bonds)

Cytosine pairs with guanine. (3 Hydrogen bonds)

65
Q

Protein synthesis (basic outline)

A

Proteins are made in the cytoplasm; 1st stage is transcription which takes place in the nucleus.

A copy of the gene that codes for the required protein is made, made from RNA.

RNA leaves the nucleus into the cytoplasm; the original gene stays in the nucleus.

RNA carries the code from the nucleus to the cytoplasm, so it is called messenger RNA.

Correct sequence of amino acids are joined in the 2nd stage, translation. Where the protein is formed.

Involves transfer RNA (tRNA) and ribosomal RNA (rRNA).

66
Q

RNA

A

Single stranded polynucleotide made of ribonucleic acid.
Contains phosphate, base and ribose sugar.
Uracil replaces thymine as a base.

67
Q

Nature of genetic code

A

3-base code carried by DNA
3 bases (1 codon) codes for 1 amino acid
code is degenerate (several triplets can code for the same amino acid)

68
Q

Transcription process

A

Enzyme RNA polymerase attaches to start of gene

Hydrogen bonds break between genes, DNA molecules unwinds at that point

One strand acts as a template to make mRNA copy

RNA polymerase lines up RNA mononucleotides along the template strand, complimentary base pairing means mRNA strand will be complimentary to template sttrand

Once paired, RNA polymerase joins the mononucleotides to form mRNA molecule

mRNA detaches from DNA and leaves nucleus through pore, original DNA remains in the nucleus

69
Q

Translation process

A

mRNA attaches to ribosome, tRNA brings amino acid to ribosome

tRNA molecule with anticodon for start codon on mRNA attaches itself to mRNA by complimentary base pairing

Second tRNA molecule attaches itself to the next codon in the same way, two amino acids on tRNA form peptide bond through condensation reaction - first tRNA moves away

Another tRNA molecule attaches to the next codon, this process repeats forming a polypeptide chain until stop codon is reached and tRNA does not transfer another amino acid

polypeptide moves away from ribosome - transcription complete

70
Q

Outline DNA replication

A

DNA double helix unwinds from one end and two strands split up as hydrogen bonds break by DNA helicase.

Free DNA nucleotides line up next to each single DNA strand and H2 bonds form between complimentary base pairs.

Enzyme DNA polymerase links adjacent nucleotides with phosphodiester bonds in condensation reaction forming new complimentary strands.

This way each original strand acts as a template on which new strand is built.

Over all two complete DNA molecules are formed, each identical to each other and the original strands.

Each of the two DNA molecules contain one “old” and “new” strand -> semi-conservative replication.

71
Q

Define gene mutation

A

Sometimes as the “new” strand is being made, inaccuracies with base pairings can cause an incorrect base to slip into place. This is an example of a gene mutation.

72
Q

Outline the basics of genes + chromosome pairs

A

Gene is a length of DNA that codes for protein, every cell apart from the sex cells contain two copies (one from each parent).

For any gene, the copies are located on the same locus (position) on the two paired chromosomes.

Humans have 23 pairs of chromosomes, chromosomes in each pair are called homologous chromosomes. one originally comes from the father the other from the mother.

73
Q

Define allele/genotype/phenotype

A

Allele; different form of the same gene

Genotype: alleles a person has

Phenotype: characteristics caused by genotype

74
Q

what is Thalassemia (single gene recessive disorder)

A

Genetic disorder affecting production of haemoglobin

Someone homozygous recessive for one of these alleles cannot produce, or produce functioning haemoglobin

75
Q

What is Albinism (single gene recessive disorder)

A

Effects production of melanin, pigment that colours skin, hair and eyes

76
Q

what is Phenylketonuria (single gene recessive disorder)

A

Rare metabolic disorder that effects breakdown of protein

77
Q

What is Huntington’s disease (single gene dominant disorder)

A

Inherited brain disorder, effects mid-life cognitive ability like walking and speech

78
Q

Testing embryos - Amniocentesis

A

Invasive technique

needle inserted into amniotic fluid to extract foetal cells that have fallen off the foetus and placenta

cells are cultured and examined for faulty allele

carried out 12-17 weeks into pregnancy - 1% chance of miscarriage

79
Q

Testing embryos - Chronic villus sampling

A

invasive technique

Using ultrasound guidance, tube is inserted through the cervix and sample of foetal villi is taken from placenta.

carried out 8-12 weeks into pregnancy - 2% chance of miscarriage

80
Q

Testing embryos - non-invasive parental diagnosis

A

DNA fragments from mother’s blood plasma are analysed, 10-20% of this “cell-free” fetal DNA (cffDNA) belongs to the embryo not the mother.

cffDNA detectable at 4-5 weeks into pregnancy

81
Q

IVF treatment

A

First an early embryo is placed into a culture till it is around 8 cells developed.

One can be removed for genetic testing without damaging the embryo.

DNA of cell is analysed and results of genetic screening are used to decide whether to put the embryo in the uterus.

IVF is expensive and can be a stressful process.

Low rates of success.

82
Q

Ethical framework 1 - Rights and duties

A

Rights are social conventions, if you live in a society you must abide by these conventions.

Some in the same society as you may have a duty to get you these rights

83
Q

Ethical framework 2 - Maximising good in the world

A

Utilitarianism - no moral absolute beyond maximising good in the world.

Always do things that increase good in the world

84
Q

Ethical framework 3 - Leading a virtuous life

A

A good life consists of acting virtuously

85
Q

Treatments for CF - Dietary changes

A

Adults with CF are recommended high energy foods and double the normal protein intake

May be advised to take salt supplements

Digestive enzyme supplements help compensate for lack of enzymes in the small intestine

86
Q

Treatments for CF - Physiotherapy

A

rhythmic tapping of chest and flutter devise can help loosen mucus + improve flow of air in/out of lungs

87
Q

Treatments for CF - Medication

A

Bronchodilators -> drugs that are inhaled using nebulisers. Drug relaxes the muscles in the airways, opening them up and relieving the tension in the chest.

Antibiotics -> used to kill or prevent growth of bacteria in the lungs.

DNAase enzymes -> Infection in lungs accumulates white blood cells, when they break down they release DNA adding to the stickiness of the mucus. DNAase can be inhaled by a nebuliser and breaks down the DNA, making the mucus easier to rid of from the lungs.

Steroids -> used to reduce inflammation of lungs.

88
Q

Treatments for CF - Future gene therapy

A

Gene therapy alters the genotype and therefor phenotype of cells affected by condition - remove genes that don’t work and replace them with ones that do

In CF gene trials, healthy CFTR protein incorporates with cell membrane thus restoring ion channel + avoiding symptoms of CF