Genes and Health Flashcards

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1
Q

How are the lungs adapted for gas exchange?

A

Millions of alveoli, alveoli have a large surface area.

Extensive capillary network

They are surrounded by a number of capillaries which leads to a short diffusion path due to the thinness of walls.

There is a steep concentration gradient between the alveoli and the blood.

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2
Q

Describe Fick’s Law.

A

Increased surface area and a greater concentration gradient increase rate of diffusion.
Thicker surface areas reduce rate of diffusion.

Rate of diffusion is directly proportional to surface area x concentration difference divided by the thickness of the surface.

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3
Q

Describe primary structure of a protein.

A

Two amino acids joined as a dipeptide, via a condensation reaction, with a peptide bond.

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4
Q

Describe secondary structure of a protein.

A

Chain coils into alpha helices caused by hydrogen bonds or folds into beta pleated sheets.

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5
Q

Describe tertiary structure of a protein.

A

Hydrophobic or hydrophilic R groups.

Disulphide, ionic or hydrogen bonds formed.

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6
Q

Describe globular and fibrous proteins.

A

Globular proteins are compact and spherical. They are soluble. Hydrophilic groups on the outside.

Fibrous proteins are long chains that are strong and cross-linked. They are insoluble. Hydrophobic groups on the outside.

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7
Q

Describe the phospholipid bilayer.

A

Phosphate heads are polar and hydrophilic. Fatty acid tails are non-polar and hydrophobic.
Glycoproteins - cell to cell recognition
Glycolipids - stability and cell to c ell recognition
Cholesterol - helps maintain stability

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8
Q

Define diffusion.

A

Net movement from an area of high concentration to an area of low concentration, until it reaches dynamic equilibrium

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9
Q

Define facilitated diffusion.

A

Polar molecules and ions cross membranes using protein carriers or channel proteins.

Channel proteins use a signal. Gated channels use a change in potential difference.

Some proteins are carrier proteins where molecules bind to a site, causing the protein to change shape and carry the molecule across the layer.

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10
Q

Define osmosis.

A

Net movement of water molecules from an area of high concentration to an area of high low concentration through a partially permeable membrane. Continues until isotonic.

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11
Q

Define active transport.

A

Movement from an area of low concentration to an area of high concentration using energy supplied by adenosine triphosphate.

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12
Q

Define exocytosis.

A

Release of a substance using vesicles. Used in bulk transport and the vesicles fuses with cell membrane

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13
Q

Define endocytosis.

A

Taking in a molecule using vesicles. Substance is surrounded by the cell membrane and engulfed in a vesicles.

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14
Q

Describe what happens where there is extra water in the mucus.

A

Sodium is transported across the basal membrane into the epithets cell and diffuses through sodium channels. Chlorine diffuses down an electrical gradient. Water is then moves out of the mucus into the epithelial cell

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15
Q

Describe what happens hen there is too little water in the mucus.

A

Chloride ions is transported across the basal membrane and diffuses through an open CFTR channel in to the epithelial cell. Sodium diffuses down an electrical gradient. The bronchus is hypertonic to the epithelial cell so water diffused into the bronchus via osmosis.

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16
Q

Describe what happens in cystic fibrosis sufferers.

A

CFTR channel is absent or dysfunctional. SO the chloride channel is dysfunctional so chloride is unable to diffuse into the bronchus and sodium channel is permanently open. Water is constantly being removed by osmosis crating thick mucus.

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17
Q

Describe the effect of cystic fibrosis on the digestive system.

A

Difficult to maintain body mass, high basal metabolic rate, requires 120-140% of daily calorie intake.
Pancreatic duct blocked with mucus, prevents release of digestive enzymes, food is not digested properly, resulting in malabsorption syndrome.

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18
Q

Describe the effect of cystic fibrosis on the reproductive system.

A

Females are less likely to become pregnant due to a mucus plug in the cervix.

Males may have a mucus plug in the cast deferens or may lack the vas deferens.

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19
Q

Haemoglobin

A

Globular so can be soluble
Contains haem group to bind oxygen
Has 4 sub units each with a haem so binds more oxygen

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20
Q

Describe DNA.

A

Made up of a phosphate, deoxyribose sugar and a nitrogenous base of adenine, thymine, guanine or cytosine. This is a nucleotide, with phosphodiester bonds, formed by a condensation reaction.

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21
Q

Describe RNA.

A

Made up of a phosphate, a ribose sugar and a nitrogenous base of adenine, uracil, guanine and cytosine.

22
Q

Describe transcription.

A

DNA helicase unzips hydrogen bonds in the double helix. Free nucleotides pair up with their complementary base pair on the anti-sense strand. RNA polymerase forms phosphodiester bonds through condensation reactions between the nucleotides to form mRNA.

23
Q

Describe translation.

A

mRNA leaves the nucleus to the ribosomes. Triplets of bases form codons which are matched with complementary anticodons on tRNA. Amino acids attached to tRNA forms peptide bonds and primary structure.
Translation is caused by a start and a stop codon.

24
Q

Nature of the DNA code

A

Triplet code ( different combinations)
Degenerate ( more than one triplet codes for the same amino acid )
Non-overlapping ( Triplet is discrete, next amino acid would be limited)

25
Q

What are the different types of mutations?

A

Substitution, insertion, deletion, frame shift.

26
Q

Describe replication.

A

Helicase unzips DNA by breaking the hydrogen bonds. Primase lays primers from 5’ to 3’ on the leading strand. DNA polymerase builds a new strand, ligase glues the fragments together. Single stranded binding fragments stop DNA from recoiling. Primase lays primers from 3’ to 5’ on the lagging strand.

27
Q

Describe Stahl and Meselson’s experiment.

A

Bacteria is initlayll fed on medium containing N15. Bacteria are then fed on N14. DNA is extracted and separated by centrifugation after one and two cell cycles. DNA from the strat dhows up as on single band of heavy DNA. DNA extracted after one cycle of replication shows up as a single band of intimidated DNA. DNA extracted after two cycles of replication shows up as one band of intermediate and one band of light DNA.

28
Q

Define molecular phylogeny.

A

Tests DNA to look for similarities in order to determine sequences.

29
Q

Describe pre-implantation genetic diagnosis.

A

IVF created embryos of which cells are tested.

30
Q

What are the treatments for cystic fibrosis?

A
Bronchodilators, antibiotics, DNAase enzymes, steroids.
Change in diet.
Enzyme supplements.
Physiotherapy.
Transplants
Gene therapy.
31
Q

Describe gene therapy.

A

Desired gene inserted into a vector. Modified DNA put into a human cell. Produces a functional protein.

32
Q

Define catabolic.

A

Breaking down.

33
Q

Define anabolic.

A

Building up.

34
Q

Define gene.

A

A sequence of bases that codes for a characteristic.

35
Q

Define allele.

A

Alternative forms of a gene found at the same locus on a chromosome.

36
Q

Define monohybrid inheritance.

A

A characteristic is only controlled by one gene.

37
Q

Genotype

A

The combination of alleles

38
Q

Phenotype

A

The characteristic of an organism determined by genotype and the environment

39
Q

Dominant gene

A

It will show up in the phenotype when the organism is homo or heterozygous

40
Q

Recessive gene

A

The characteristic of the gene will only show up in a homozygous conditions

41
Q

Incomplete dominance

A

The genotype is heterozygous but one allele does not complete dominant over another alle and therefore resulting in a new phenotype.

42
Q

Enzyme

A

Biological catalysts
Lowers the activation energy
Is not living so cannot be killed/used up
Denatures

43
Q

Lock and Key

A

Enzyme and substrate collide and the substrate enters the active site which is completely
Enzyme-substrate complex forms and the bond brakes or forms
Products releases from active site

44
Q

Effect PH has on enzyme

A

PH affects shape of active site
PH affects chemical bonds
Active site changes

45
Q

Protein Structure

A
H   H   O
       |     |    ||
H - N - C - C - OH
             |
            R
46
Q

Collagen

A

Fibrous so is insoluble
3 alpha helices wrapped round each other like a rope.
Every third aa is glycine - that only has an H as the R group so is able to fit into the space in the middle of the helix.
The others are hydrophobic R groups that repel each other to maintain the fibrous structure.

47
Q

Amniocentesis v chorionic villus sampling

A

Both sample foetal DNA
Both look for known genetic problems
Amnio is later (14-16 weeks against 8-10 weeks)
CV sampling is quicker - results take one day rather than 3 days.

48
Q

Ethical issues with Amniocentesis and chorionic villus sampling

A
  • False negatives

- Abortion decisions is hard

49
Q

Enzyme Core Practical

A

Time taken for X to be seen. Casein solution and trypsin

50
Q

Beetroot core practical

A

Cut beetroot into 1cm lengths. Place in distilled water to remove any dye. Place 8 boiling tubes of distilled water into 8 water baths of different temperatures. Place beetroot into each boiling tube and leave for 30 minutes. Remove beetroot and shake to disperse dye. Set a colorimeter to absorbance on blue/green filter. Calibrate using distilled water in a cuvette. Then read the absorbance of the other boiling tubes.

Increasing temperature leads to more destruction to the cell membrane, so more pigment leaves the cell.