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Biology > T2: Genes And Health > Flashcards

T2: Genes And Health Flashcards

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1
Q

Describe the lung structure

A

Trachea
Bronchi
Bronchioles
Alveoili

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2
Q

Adaptations of the trachea

A

Ciliate epithelium
Produce mucus to trap pathogens
Sweeps away pathogens

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3
Q

What is epithelial tissue

A

Lines surfaces in your body

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4
Q

Name and describe 3 types of epithelial tissue

A

Columnar epithelium: apical membrane, columnar epithelium cells, basement membrane, extra cellular matrix
Squamous epithelium: apical membrane, squamous epithelium cells, basement membrane, extra cellular matrix
Ciliated epithelium: ciliated epithelium cells, goblet cells, basement membrane, extra cellular matrix

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5
Q

What are the alveoli and how are they adapted to their unctions
Why do boys steal mums veal

A

Site of gas exchange of CO2 and O2
Short dd (squamous epithelium)
Conc grad (good bs flow, ventilation)
Large SA
Moist lining (gases can dissolve/diffuse)
Warm (increase ROD)

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6
Q

Fick’s law

A

ROD = (SA x conc diff) / dd
ROD = k x SA
ROD = k x conc grad
ROD = k / dd

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7
Q

Structure of amino acid

A

Amine group (NH2) R group (CHR) carboxylic acid group (COOH)

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8
Q

Structure of amino acid dissolved in water

A

Amino acid
Carboxylic acid loses an H
H goes to amine group
Amine group = pos charg
Carboxylic acid group = neg charge

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9
Q

How are polypeptides formed

A

Peptide bonds between AG and CAG
CAG loses OH
AG loses H
Condensation reaction
Water formed
(Reverse = hydrolysis)

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10
Q

What is an R group

A

Group that gives different chemical characteristics
2 types

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11
Q

Charged/ionic R group 2 examples

A

Aspartic acid
Lysine

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12
Q

Polar R group

A

Not charged
Interacts with water
Forms hydrogen bonds
Serine

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13
Q

Hydrophobic R group

A

Don’t bond with water
Hydrocarbon side chains
Valine
Phenylalanine

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14
Q

Describe the primary structure of an polypeptide

A

Sequence of amino AAs
Peptide bonds
Start = N terminal, AG
End = C terminal CAG

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15
Q

Describe the secondary structure of an polypeptide

A

3D structure
Hydrogen bonds between backbone of AA chain (polypeptide excluding RG)
Alpha: helix, RG point out, HB between C=O and N=H of different AAs
Beta: folded sheet, RG alternate in direction, HB between C=O and N=H of adjacent strand AAs

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16
Q

Describe the tertiary structure of an polypeptide

A

Disulphide bridges: cov bonds between 2 s
Charged/salt bridges/ionic: pos charged RG
Polar: RG move outside, hydrophilic, can form HB with each other
Hydrophobic: R groups move to centre, away from water

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17
Q

Describe the quaternary structure of an polypeptide

A

Multiple folded polypeptides/groups
Same interactions as tertiary structure

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18
Q

Name two variables that lead to denaturing proteins

A

Temperature
Ph

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19
Q

How does temperature cause denaturing

A

Polypeptide moves more as temp increases
Threshold temp, ionic/hydrogen/hydrophobic bonds break
Elongates protein

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20
Q

How does pH cause denaturing

A

Charged AA lose/gain charge
Pos charged AA: acidic = removes charge
Neg charged AA: alkali = removes charge

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21
Q

Name two types of proteins

A

Fibrous
Globular

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22
Q

Describe a fibrous proteins and give an example

A

Insoluble in water
3 long chains
Overlap at ends
Structural/mechanical function (muscle)
Collagen

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23
Q

Describe a globular proteins and give an example

A

Soluble in water
Enzymes, carrier/signalling molecules
Individual proteins not long structures
Haemoglobin

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24
Q

Collagen

A

Repeating pattern (fly, pro, pro)
Glycine: small RG, closely packed
Proline: limits rotation
Helix

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25
Q

Haemoglobin

A

4 subunits, can carry 4 oxygen molecules
Iron core
Globular
Transports oxygen in RBCs

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26
Q

Name and describe the 5 parts of a phospholipids

A

Phosphate: hydrophilic, polar
Glycerol: hydrophilic
Fatty acids: hydrophobic
Ester bond
Phosphoester bond

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27
Q

Describe the fluid mosaic structure

A

Bilayer of phospholipids, head face out, tails face in
Glycoproteins, peripheral, integral proteins
Cholesterol
Partially permeable

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28
Q

Name 3 factors that effect the fluidity of the cell membrane

A

No. Cholesterol, fill tail gaps, increase fluidity
Temperature, more KE, more fluidity
No. Unsaturated fatty acids, more fluidity

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29
Q

Describe un/saturated fatty acids and how they effect the cell membrane

A

Saturated, single bond between Cs, straight Thais, easily stacked, less fluid
Unsaturated, double bonds between Cs, kinked tails, not easily stacked, more fluid

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30
Q

Describe how different types of molecules pass through the cell membrane

A

Small, non-polar, phospholipid gaps
Large, polar, channel/carrier proteins

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31
Q

Describe scientific evidence for the fluid mosaic cell membrane structure

A

Gorter and Grendel
Bilayer, SA RBC vs lipid 1:2
Davson and Davelli
Layered proteins, electron micrograph, ligh band
Robertson
Trilaminar, polypeptide, bilayer, polysaccharide, electron micrograph, non uniform
Singer and Nicolson
Fluid mosaic, proteins within bilayer, FRAP, can move

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32
Q

Name 6 forms of movement

A

Diffusion
Facilitated diffusion
Osmosis
Active transport
Endocytosis
Exocytosis

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33
Q

Describe Diffusion

A

New movement of particles from high to low concentration
Reaches equilibrium
Passive
Hydrophobic, small, uncharged particles

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34
Q

Describe Facilitated diffusion

A

Transport/channel/carrier proteins
High to low concentration
Reaches equilibrium
Passive
Hydrophilic, large, charged particles

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35
Q

Describe osmosis

A

Net movement of water from high to low water potential through a partially permeable membrane

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36
Q

Describe active transport

A

carrier proteins/pumps
Na/K nervous control
Low to high concentration
Needs ATP/energy

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37
Q

Describe endocytosis

A

Bulk transport, taking material IN
Memebrahne folds around particle
Forms vacuole, digest food
Needs energy

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38
Q

Exocytosis

A

Bulk transport
Takes material OUT
Vesicles fuse with cell surface membrane
Release contents
Requires energy

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39
Q

Describe the mononucleotides

A

Phosphate
Pentose sugar (deoxy/ribose)
Nitrogenous base (pyrimidine/purine)
Anti parrallel link

40
Q

Nitrogenous bases

A

Pyrimidine, 1 nitrogenous ring, C/T
Purine, 2 nitrogenous ring, A/G
C - G, 3 H bonds, stronger
T - A, 2 H bonds, weaker

41
Q

Describe the DNA structure

A

Deoxyribonucleic acid
Double helix
Made of nucleotides
Hydrogen bonding between complimentary base pairs

42
Q

Genotype

A

Alleles that an organism has

43
Q

homozygous

A

Both alleles for one gene are the same

44
Q

Heterozygous

A

Alleles for one gene are different

45
Q

Recessive

A

Both alleles needed to be expressed in the phenotype

46
Q

Phenotype

A

What organism looks like

47
Q

Dominant

A

If allele is present it will always be expressed in he phenotype

48
Q

Gene

A

Sequence of bases on a DNA molecule that codes for the amino acid sequence of a specific polypeptide chain

49
Q

RNA

A

Copy of one strand of DNA

50
Q

Codons

A

3 bases grouped together
64 codons
Non overlapping
Degenerate (multiple encode same amino acid)
20 amino acids
Stop/start codons, signal end/strt of protein chain

51
Q

Describe protein synthesis generally

A

Transcription: DNA base pairs -> mRNA
Translation: tRNA + mRNA -> polypeptide

52
Q

Transcription

A

Nucleus
RNA polymerase attaches to DNA in front of non coding gene
Enzyme unzips DNA strand (break H bonds)
Enzyme adds comp RNA nucleotides to antisense
DNA strands join back
mRNA leaves through nuclear pore

53
Q

Translation

A

Ribosomes
Bases read in codons
Codons encode aa
Anticodons on aa comp mRNA codons
Ribosomes move along mRNA
Join aa (peptide bonds) -> Polypetide
Folds -> protein

54
Q

Describe mutation

A

Change in genetic base sequence
Variation
Most have no effect on phenotype
Some make alleles (change protein shape/function)

55
Q

Causes of mutation

A

Random
Cell division
Ionising radiation
Carcinogens

56
Q

CFTR role

A

Controls mucus viscosity
Epithelial cells
Airway/reproductive/digestive systems
Too sticky: cilia cant beat/remove mucus, clogs airway
Too runny: mucus floods airway

57
Q

Genome

A

All the genes in an individual

58
Q

Allele

A

Different forms of the same gene

59
Q

Describe DNA replication

A

Growth and repair
Mitosis/cell division
Exact copy of genetic material

60
Q

Describe the DNA replication process

A

DNA helicase breaks H bonds between strands
Free nucleotides bind, comp bases
DNA polymerase + nucleotides -> sugar phosphate backbone, phosphoester bond, condensation
2 new DNA molecules, one OG strand, one new
Semi conservative
DNA rewound by enzyme

61
Q

DNA conservative theory

A

Complete DNA molecule
Template for daughter strand
Assembled only for nucleotides
Parent molecule unchanged

62
Q

DNA fragmentary/dispersive

A

Parent strand fragments -> nucleotides
Old and new nucleotides make strand

63
Q

Practical evidence for semi-conservative theory

A

E coli bacteria
Different DNA densities
Centrifuge
Nitrogen -> bacteria -> new DNA
N15, low line
N14, middle line
Conservative disproved (2 lines high/low)
N14, again, 2 lines middle/high
Fragmentary: disproved, middle line
Semi conservative: proved

64
Q

CTFR protein function

A

Controls mucus viscosity
Lines epithelial cells
Airway/digestive/reproductive
Maintain salt/water balance
Uses ion channel

65
Q

Epithelial cell membrane general structure

A

2 carrier proteins/pumps
Active transport Na+,Cl-
2 channel proteins
Facilitated diffusion Na+,Cl-

66
Q

Describe what happens if there’s excess water near the epithelial cell membrane

A

Na+ AT out cell by Na+ pump
Low conc inside cell
Na+ FD in cell by channel
Cl- moves down elec gradient (gap between cells)
Na+ charge balanced
Tissue fluid, low water potential
Water -> cell -> osmosis -> tissue fluid
Water -> mucus-> osmosis -> cell
Mucus -> stickier

67
Q

Describe what happens if there’s too little water near the epithelial cell membrane

A

// Cl- AT in cell by Cl- pump
High conc inside cell
// Cl- FD out cell by open Cl- channel
// Na+ moves down elec gradient (gap between cells)
Cl- charge balanced
Mucus, low water potential
Water -> cell -> osmosis -> mucus
Water -> tissue fluid-> osmosis -> cell
Mucus -> looser

68
Q

Describe how the CF protein effects epithelial cell membrane function

A

CTFR channel doesnt work
Na+ channel open always
Na+ always absorbed from mucus
Draws Cl- and water out mucus
More viscous mucus
Hard for cilia to remove

69
Q

What is an enzyme

A

Globular
Biological catalyst
Lower activation energy
Unchanged themselves

70
Q

Anabolic example

A

Maltase
Digests maltose -> glucose
Saliva

71
Q

Catabolic examples

A

Lipase
Digest fat in gut
Amylase
Digests starch -> sugar in saliva
Trypsin
Digests proteins -> AAs, SI

72
Q

Diploid cell

A

46 chromosomes 23 pairs
Made from 2 haploid cells

73
Q

Haploid cell

A

23 chromosomes
Gametes (sperm + egg)

74
Q

Cystic fibrosis symptoms

A

Severe coughing (remove excess mucus)
Breathlessness (O2/energy shortage)
Infections (bac in mucus)

75
Q

Respiratory CF effects

A
  • Lung infections, cilia cant move, thick mucus build up, low O2, poor diffusion, anaerobic bac thrive, trapped, infection, cough to clear, damage tissue, inflammation
  • reduce gas exchange, mucus blocks bronchioles, fewer alveoli, less SA, more dd, lower rate, in not out, over inflation, elasticity damage
76
Q

Digestive CF effects

A
  • Pancreatic tube blocked, Enzymes can’t reach SI
  • Mucus -> pancreatic cysts! Less enzyme production
  • Mucus coats I lining
    Less food absorption
    Key nutrients lost
77
Q

Reproductive CF effects

A

Mucus prevents infection/regulate sperm progress
Teste tubes blocked, sperm can’t reach Lena
Cervical mucus, prevent fertilisation

78
Q

Name 3 medication CF treatments

A

Bronchodilators
Antibiotics
DNA enzymes

79
Q

Bronchodilators

A

Nebuliser inhaled drug
Opens airways
Relax msucles

80
Q

CF antibiotics

A

Lung infections
Kill lung bacteria

81
Q

DNA enzymes CF

A

Nebuliser inhaled
Infection, more WBC, more DNA, more stickiness
Enzymes break down DNA
Mucus easier to clear

82
Q

CF diet treatment

A

High energy foods
2X protein
Salt supplements

83
Q

Digestive enzyme supplements CF treatment

A

Pancreatic duct blocked
SI can breakdown/absorb food

84
Q

Physiotherapist CF treatment

A

Rhythmical chest cavity wall tapping
Loosen mucus
Improve air flow
2X a day

85
Q

Gene therapy CF treatment

A

Replace mutated gene (normal allele -> GM virus/liposome -> target cells -> tt -> functioning protein)
Inactivate mutated gene
Repair mutated gene
Introduce new gene to fight genetic disorder

86
Q

CF genetic screening test

A

Salty skin
High trypsinogen
Before/during pregnancy

87
Q

Uses of genetic screening

A

Confirm diagnosis
Identify carriers
Test embryos

88
Q

Amniocentesis

A

Invasive
Foetal cells
Cultured before analysis
1% miscarriage
10 weeks

89
Q

Choronic villus sampling

A

Invasive
8-12 weeks
Placental tissue
Vaginally
1-2% miscarriage
Earlier, abortion decision easier

90
Q

Prenatal diagnosis

A

Non invasive
DNA fragments in mothers plasma
7-9 weeks
Screen few single gene disorders
No miscarriage risk

91
Q

Preimplantation genetic diagnosis

A

Cell from embryo 8-16 cells
DNA analysed
Choose implantation
Expensive

92
Q

In vitro fertilisation

A

Oocytes removed by syringe
Sperm sample
Solution
Zygotes -> culture solution -> embryos
Genetic test
2/3 vaginally inserted to uterus

93
Q

Ethical framework

A

Rights and duties
- baby right to life
- mother right to preserve life
- right to autonomy
Utilitarianism
- maximise good
- deliver suffering baby, use resources
- still bring parents joy
Virtuosity
- love irrelevance
Autonomy
- informed, consensual

94
Q

Genetic counselling

A

Explain tests
Discuss courses of action
Probabilities
Screening
Difficult decisions

95
Q

Practical evidence for semi conservative DNA replication theory

A

E. coli grown in N15 medium
Centrifuge = low line
N14 medium, isolate 1st generation
Centrifuge = middle line
2 lines (high and low) would be conservative
N14 medium extended
Centrifuge = high line and middle line
1 middle line would be fragmentary

Biology (8 decks)

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