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Biology > T2: Genes And Health > Flashcards

T2: Genes And Health Flashcards

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
Haemoglobin
4 subunits, can carry 4 oxygen molecules Iron core Globular Transports oxygen in RBCs
26
Name and describe the 5 parts of a phospholipids
Phosphate: hydrophilic, polar Glycerol: hydrophilic Fatty acids: hydrophobic Ester bond Phosphoester bond
27
Describe the fluid mosaic structure
Bilayer of phospholipids, head face out, tails face in Glycoproteins, peripheral, integral proteins Cholesterol Partially permeable
28
Name 3 factors that effect the fluidity of the cell membrane
No. Cholesterol, fill tail gaps, increase fluidity Temperature, more KE, more fluidity No. Unsaturated fatty acids, more fluidity
29
Describe un/saturated fatty acids and how they effect the cell membrane
Saturated, single bond between Cs, straight Thais, easily stacked, less fluid Unsaturated, double bonds between Cs, kinked tails, not easily stacked, more fluid
30
Describe how different types of molecules pass through the cell membrane
Small, non-polar, phospholipid gaps Large, polar, channel/carrier proteins
31
Describe scientific evidence for the fluid mosaic cell membrane structure
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
32
Name 6 forms of movement
Diffusion Facilitated diffusion Osmosis Active transport Endocytosis Exocytosis
33
Describe Diffusion
New movement of particles from high to low concentration Reaches equilibrium Passive Hydrophobic, small, uncharged particles
34
Describe Facilitated diffusion
Transport/channel/carrier proteins High to low concentration Reaches equilibrium Passive Hydrophilic, large, charged particles
35
Describe osmosis
Net movement of water from high to low water potential through a partially permeable membrane
36
Describe active transport
carrier proteins/pumps Na/K nervous control Low to high concentration Needs ATP/energy
37
Describe endocytosis
Bulk transport, taking material IN Memebrahne folds around particle Forms vacuole, digest food Needs energy
38
Exocytosis
Bulk transport Takes material OUT Vesicles fuse with cell surface membrane Release contents Requires energy
39
Describe the mononucleotides
Phosphate Pentose sugar (deoxy/ribose) Nitrogenous base (pyrimidine/purine) Anti parrallel link
40
Nitrogenous bases
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
Describe the DNA structure
Deoxyribonucleic acid Double helix Made of nucleotides Hydrogen bonding between complimentary base pairs
42
Genotype
Alleles that an organism has
43
homozygous
Both alleles for one gene are the same
44
Heterozygous
Alleles for one gene are different
45
Recessive
Both alleles needed to be expressed in the phenotype
46
Phenotype
What organism looks like
47
Dominant
If allele is present it will always be expressed in he phenotype
48
Gene
Sequence of bases on a DNA molecule that codes for the amino acid sequence of a specific polypeptide chain
49
RNA
Copy of one strand of DNA
50
Codons
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
Describe protein synthesis generally
Transcription: DNA base pairs -> mRNA Translation: tRNA + mRNA -> polypeptide
52
Transcription
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
Translation
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
Describe mutation
Change in genetic base sequence Variation Most have no effect on phenotype Some make alleles (change protein shape/function)
55
Causes of mutation
Random Cell division Ionising radiation Carcinogens
56
CFTR role
Controls mucus viscosity Epithelial cells Airway/reproductive/digestive systems Too sticky: cilia cant beat/remove mucus, clogs airway Too runny: mucus floods airway
57
Genome
All the genes in an individual
58
Allele
Different forms of the same gene
59
Describe DNA replication
Growth and repair Mitosis/cell division Exact copy of genetic material
60
Describe the DNA replication process
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
DNA conservative theory
Complete DNA molecule Template for daughter strand Assembled only for nucleotides Parent molecule unchanged
62
DNA fragmentary/dispersive
Parent strand fragments -> nucleotides Old and new nucleotides make strand
63
Practical evidence for semi-conservative theory
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
CTFR protein function
Controls mucus viscosity Lines epithelial cells Airway/digestive/reproductive Maintain salt/water balance Uses ion channel
65
Epithelial cell membrane general structure
2 carrier proteins/pumps Active transport Na+,Cl- 2 channel proteins Facilitated diffusion Na+,Cl-
66
Describe what happens if there’s excess water near the epithelial cell membrane
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
Describe what happens if there’s too little water near the epithelial cell membrane
// 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
Describe how the CF protein effects epithelial cell membrane function
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
What is an enzyme
Globular Biological catalyst Lower activation energy Unchanged themselves
70
Anabolic example
Maltase Digests maltose -> glucose Saliva
71
Catabolic examples
Lipase Digest fat in gut Amylase Digests starch -> sugar in saliva Trypsin Digests proteins -> AAs, SI
72
Diploid cell
46 chromosomes 23 pairs Made from 2 haploid cells
73
Haploid cell
23 chromosomes Gametes (sperm + egg)
74
Cystic fibrosis symptoms
Severe coughing (remove excess mucus) Breathlessness (O2/energy shortage) Infections (bac in mucus)
75
Respiratory CF effects
- 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
Digestive CF effects
- 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
Reproductive CF effects
Mucus prevents infection/regulate sperm progress Teste tubes blocked, sperm can’t reach Lena Cervical mucus, prevent fertilisation
78
Name 3 medication CF treatments
Bronchodilators Antibiotics DNA enzymes
79
Bronchodilators
Nebuliser inhaled drug Opens airways Relax msucles
80
CF antibiotics
Lung infections Kill lung bacteria
81
DNA enzymes CF
Nebuliser inhaled Infection, more WBC, more DNA, more stickiness Enzymes break down DNA Mucus easier to clear
82
CF diet treatment
High energy foods 2X protein Salt supplements
83
Digestive enzyme supplements CF treatment
Pancreatic duct blocked SI can breakdown/absorb food
84
Physiotherapist CF treatment
Rhythmical chest cavity wall tapping Loosen mucus Improve air flow 2X a day
85
Gene therapy CF treatment
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
CF genetic screening test
Salty skin High trypsinogen Before/during pregnancy
87
Uses of genetic screening
Confirm diagnosis Identify carriers Test embryos
88
Amniocentesis
Invasive Foetal cells Cultured before analysis 1% miscarriage 10 weeks
89
Choronic villus sampling
Invasive 8-12 weeks Placental tissue Vaginally 1-2% miscarriage Earlier, abortion decision easier
90
Prenatal diagnosis
Non invasive DNA fragments in mothers plasma 7-9 weeks Screen few single gene disorders No miscarriage risk
91
Preimplantation genetic diagnosis
Cell from embryo 8-16 cells DNA analysed Choose implantation Expensive
92
In vitro fertilisation
Oocytes removed by syringe Sperm sample Solution Zygotes -> culture solution -> embryos Genetic test 2/3 vaginally inserted to uterus
93
Ethical framework
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
Genetic counselling
Explain tests Discuss courses of action Probabilities Screening Difficult decisions
95
Practical evidence for semi conservative DNA replication theory
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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