Topic 2 Ford Flashcards

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1
Q

What is Cystic Fibrosis?

A
  • a genetic disease that’s caused by inheriting a recessive allele
  • it results in stickier mucus
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2
Q

Structures in the lungs

A
  • trachea
  • bronchus (bronchi)
  • bronchioles
  • alveolus (alveoli) –> where gas exchange occurs
  • diaphragm
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3
Q

Endothelium

A

a single layer of squamous epithelial cells to create a short diffusion distance

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4
Q

Types of epithelium

A
  • columnar –>tall cells
  • squamous –> flat cells
  • cuboidal –> square cells (large SA)
  • stratified –> multiple layers
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5
Q

What type of epithelial cells are found in the lungs?

A

pseudostratified ciliated columnar epithelium

fake - has layers, has cilia, tall

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6
Q

Cilia

A

hair like structures beat and move mucus up and out of lungs

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7
Q

Basement membrane

A

holds cell in position, touching connective tissue

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8
Q

Goblet cell

A

produces mucus which is released into the airway

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9
Q

Apical membrane

A

in touch with gases and mucus

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10
Q

How does the structure of alveoli and surrounding capillaries ensure there is rapid diffusion across the gas exchange surface?

A
  • large surface area –> lots of alveoli
  • plentiful blood supply –> numerous capillaries which maintains the concentration gradient
  • short diffusion pathway –> one cell thick
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11
Q

How does the rate of diffusion change as an object gets bigger?

A

the rate of diffusion doesn’t change we just expect it to travel further

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12
Q

Diffusion

A

the net movement of particles from a high concentration to a low concentration (down a concentration gradient) until equilibrium is achieved
PASSIVE

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13
Q

Factors affecting diffusion

A

-concentration gradient
-surface area
-diffusion distance
(-temperature –> not relevant as body temperature)

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14
Q

How do we maintain the concentration gradient?

A
  • continuous blood flow

- lots of ventilation (breathe in/out)

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15
Q

Fick’s Law

A

the rate of diffusion is proportional to the (surface area x concentration difference) / membrane thickness

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16
Q

What happens in the lungs of a CF sufferer?

A
  • mucus is normally move up by cilia
  • the mucus isn’t moved as the mucus is stickier
  • gas exchange becomes less efficient
  • this can cause less oxygen in and carbon dioxide out so there is a smaller concentration gradient
  • also if it becomes blocked the overall surface area of the lungs will be reduced
  • sometimes pathogens will get caught
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17
Q

Typical cell membrane

A

phospholipid bilayer

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18
Q

Phospholipid

A

has a phosphate head and 2 fatty acid tails (is made by removing a fatty acid from a triglyceride and replacing it with a phosphate)

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19
Q

Why does a bilayer form?

A
  • because both fluids (the cytoplasm and tissure fluid) are aqueous
  • the phosphate head is hydrophilic and the fatty acid tail is hydrophobic so to satisfy both parts of the phospholipid it creates two layers so the water loving heads are in the aqueous solutions and the fatty acid tails are separated from it
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20
Q

What is the most stable arrangement for phospholipids?

A

a bilayer

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21
Q

Phospholipid bilayer function

A

provides stability, fluidity and selective permeability (to small non-polar molecules)

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22
Q

Proteins and glycoproteins function (protein and carbohydrate)

A

many diverse functions: channels, transporters, receptors, enzymes

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23
Q

Glycolipid function (lipid and carbohydrate)

A

involved in cell cell recognition

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24
Q

Cholesterol function

A

reduces membrane fluidity

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25
Q

Glycolipids

A

attached to phosphate heads

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26
Q

Glycoproteins

A

attached to proteins

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27
Q

Cholesterol

A

within the membrane

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28
Q

Integral membrane protein

A

embedded within the membrane

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29
Q

Transmembrane proteins

A

these are integral proteins which span all the way across the membrane

30
Q

Peripheral proteins

A

attached to the surface of the membrane

31
Q

Facilitated diffusion

A

-diffusion with the aid of proteins either channel or carrier
-channel –> transport different molecules with a specific shape allowing them through, has an aqueous environment (some are gated)
-carrier –> proteins change shape to allow the specific molecule to pass through them
PASSIVE

32
Q

Osmosis

A

the net movement of free water molecules from a high concentration to a low concentration of free water molecules through a partially permeable membrane
PASSIVE

33
Q

Active Transport

A

the net movement of molecules from a low concentration to a high concentration of molecules through a partially permeable membrane
ACTIVE –> REQUIRES ENERGY FROM ATP

34
Q

Exocytosis

A

vesicles fuse with the cell membrane and release their contents out of the cell

35
Q

Endocytosis

A

vesicles are created from the membrane to bring contents into the cell

36
Q

Vesicle

A

small membrane bound sacs

37
Q

How can you treat CF?

A

you can’t really but to make it easier you can take antibiotics to kill bacteria as you’re more prone to bacterial infection. Also physiotherapy is used to dislodge mucus

38
Q

Why is extra sticky mucus produced?

A

because the epithelial cells don’t regulate the water content of the mucus correctly

39
Q

How might a CFTR protein be faulty?

A
  • never made
  • folded wrong, not in membrane
  • doesn’t function properly
  • faulty opening
  • breaks down quickly after being made
  • made in smaller quantities than norma
40
Q

Effects of CF on the reproductive system

A
  • mucus plug develops in cervix –> stops the sperm getting past it at any point
  • vas deferens are absent or blocked by sticky mucus –> stop sperm being produced
  • in both cases sperm can’t reach the egg
41
Q

Effects of CF on the digestive system

A
  • the pancreas is where digestive enzymes and insulin and glycogen are made
  • the pancreatic duct gets blocked by sticky mucus so digestive enzymes don’t get into the small intestine
  • less food is digested so not absorbing nutrients
  • maintaining body mass is difficult, diabetes, enzyme damage to pancreas tissue
42
Q

Chromosomes in humans

A

46 chromosomes, 23 pairs

43
Q

Homozygous

A

2 identical copies of the allele

44
Q

Recessive

A
  • the allele that will only code for a protein if the dominant allele is absent
  • 2 of these need to be present for it to be expressed
45
Q

Phenotype

A

the characteristic seen which is cause by the genotype

46
Q

Dominant

A
  • the allele that codes for a protein even if the recessive allele is present
  • only one allele needs to be present for the characteristic to be expressed
47
Q

Genotype

A

the combination of alleles that a person has

48
Q

Heterozygous

A

2 different alleles - genotype containing different alleles with different instructions

49
Q

Alleles

A

different versions (alternative form) of the same gene

50
Q

Locus

A

the position of a gene on a chromosome

51
Q

Gene

A
  • the length of DNA that codes for a protein

- sequence of bases on DNA that codes for a sequence of amino acids in a polypeptide chain

52
Q

Monohybrid inheritance

A

inheritance of a characteristic controlled by a single gene

53
Q

Incomplete/Co-dominance

A
  • when one allele is recessive and one is dominant - there’s an in between so this is what is seen as the phenotype
  • neither allele is completely dominant and both effects of the alleles are shown in the phenotype
54
Q

Dihybrid inheritance

A

inheritance of two independent characteristics controlled by two different genes

55
Q

Example of co-dominance

A

blood type genotype I^AI^B –> phenotype AB

56
Q

Sex linkage

A

the chance of getting a disease is linked to the XY chromosomes (if an allele for a disease is on the Y chromosome then women can’t pass it on, if the allele is on the X chromosome then a father can’t pass it to his son because he would pass on his Y chromosome, females have greater reduced chances of getting a dominant allele because they have 2 X chromosomes)

57
Q

Genetic screening

A

allows you to identify carriers and diagnose a disease

58
Q

Prenatal genetic testing

A

testing of DNA from an embryo or foetus

59
Q

Amniocentesis

A
  • insert a needle into the amniotic fluid to collect fetal cells that have fallen off the placenta and fetus or a sample of amniotic fluid
  • usually at 15-17 weeks
  • 1% risk of miscarriage
60
Q

Chorionic Villus Sampling

A
  • small sample of placental tissue removed either through abdomen wall or vagina
  • usually at 8-12 weeks
  • 1/2% risk of miscarriage
61
Q

Genetic testing

A

-can confirm an initial diagnosis and identify carriers of ‘faulty’ genes

62
Q

Testing before implantation (PGD)

A
  • If there’s a family history of the disease then pre-implantation genetic diagnosis may be an option
  • The couple undergo in vitro fertilisation
  • Once embryos are created, they can be tested before being put into the uterus
  • One cell can be removed without harming the embryo and can be tested for disease
  • They can decide which embryo to put back into the uterus
63
Q

In vitro fertilisation

A
  • mix sperm and egg cells
  • fertilisation
  • create an embryo
  • inserted into uterus

is expensive and stressful, also the success rates are quite low

64
Q

IVF ethical issues

A
  • embryo may be damaged and they have a right to life
  • embryo may be destroyed
  • false negative leading to parents preparing incorrectly emotionally and physically
65
Q

Rights and Duties

A

we have certain rights and because of this we have duties towards people

66
Q

Maximising the good in the world

A

always do whatever maximises the good in the world. Utilitarianism have no other moral absolutes

67
Q

Making decisions for yourself

A

you get to decide what you want - informed decision and consent so able to think about yourself

68
Q

Leading a virtuous life

A

the good life consists of acting virtuously, consider the virtues before deciding (justice, wisdom, faith, hope, courage, charity)

69
Q

Prenatal testing ethical issues

A
  • risk of damage to fetus and risk of miscarriage (fetus has right to life)
  • false negative; parents not prepared emotionally/financially
  • confidentiality issues; paternal DNA not match
70
Q

Advantages of genetic screening

A
  • can make informed decisions
  • can prepare mentally and financially
  • early diagnosis allows better treatments
71
Q

Homologous

A

pairs of chromosomes (one from the male parent and one from the female parent)