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Biology > Topic 2: Genes and health. > Flashcards

Topic 2: Genes and health. Flashcards

1
Q

Describe how to increase Rate of diffusion.

A

Surface area exchanged across increases.
Diffusion distance decreases.
Diffusion gradient made more steep.

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2
Q

State Fick’s law.

A

Rate of diffusion= surface area* Concentration difference/ distance.

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3
Q

Adaptions of the Lungs for Rapid gas exchange.

A

Large surface area due to alveoli.
Good supply of circulatory blood ensuring concentration gradient is steep.
Short diffusion gradient as only one cell thick walls.

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4
Q

Name the types of movement of molecules across a membrane.

A

Diffusion.
Facilitated diffusion.
Osmosis.
Active transport.
Endocytosis/exocytosis.

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5
Q

Describe Diffusion.

A

Passive movement of small non-polar, lipid-soluble molecules such as carbon dioxide and oxygen.
High to low concentration.

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6
Q

Describe Facilitated Diffusion.

A

Requires a channel protein.
Transports Polar charged and water-soluble molecules.

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7
Q

Describe Osmosis.

A

Movement of water molecules from low solute to high solute.
goes through a partially permeable membrane.

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8
Q

Describe Active transport.

A

Transport any molecule through carrier proteins.
Transport is often against concentration gradient.
Requires ATP.

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9
Q

Describe Endocytosis/Exocytosis.

A

Transports large particles.
Endocytosis:
Enclosed vesicle joins with outer membrane pushing molecule inside.
Exocytosis:
Enclosed vesicle joins with inner membrane and pushes particle out of cell.

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10
Q

Describe the pairing in DNA.

A

A-T.
C-G.

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11
Q

Name the sugar in DNA.

A

Deoxyribose.

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12
Q

Describe the structure of DNA.
Double stranded, alpha double helix with a sugar-phosphate backbone on each stand.

A
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13
Q

Describe the pairing in mRNA.

A

A-U.
C-G.

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14
Q

Name the sugar in mRNA.

A

Ribose.

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15
Q

Describe the structure of mRNA.

A

Single stranded, non folded.

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16
Q

Describe the structure of tRNA.

A

Single stranded, folded held together with hydrogen bonds, carries anticodons complementary to mRNA codons. Has a specific Amino Acid attached to it.

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17
Q

Name the two stages of Protein syntheses.

A

Transcription.
Translation.

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18
Q

Describe Transcription.

A

Occurs in Nucleus.
Hydrogen bonds in DNA are broken by DNA helicase.
One strand is used as template.
Free nucleotides line up in complementary base pairs.
Forming mRNA made by RNA polymerase.
mRNA then moves through pore out of nucleus attaching to a ribosome.

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19
Q

Describe Translation.

A

tRNA anticodons line up with codons on mRNA.
Amino Acids are released from tRNA and join together through condensation reaction making a peptide bond.
This process is repeated until a stop codon is reached on mRNA.

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20
Q

Describe an Amino acid.

A

Contain an amino group (NH2).
Contains a carboxyl group (COOH).
Contains a variable R group.
Contains a single Hydrogen molecule on the C.

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21
Q

Describe a Dipeptide.

A

A molecule containing two Amino acids joined together through a condensation reaction making a peptide bond.

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22
Q

Name the different structures of Proteins.

A

Primary structure.
Secondary structure.
Tertiary structure.
Quaternary structure.

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23
Q

Describe the Primary structure of a protein.

A

A sequence of Amino acids no folds.

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24
Q

Describe the Secondary structure of a protein.

A

2D arrangement of the chain of Amino acids.
Either an Alpha helix or Beta pleated sheet.

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25
Q

Describe the Tertiary structure of a protein.

A

3D folding of the secondary structure into a complex shape.
Shape is determined by type of bonding present either:
Hydrogen bonding.
Ionic bonding.
Disulphide bridges.

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26
Q

Describe the Quaternary structure.

A

3D arrangement of multiple polypeptides not all have all levels of structure.

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27
Q

Name the two types of proteins.

A

Fibrous.
Globular.

28
Q

Describe Fibrous proteins.

A

Long parallel polypeptides.
little tertiary/quaternary structure.
Occasional cross-linkages, forming microfibres for tensile strength.
Insoluble.
Used for structural purposes like collagen.

29
Q

Describe Globular proteins.

A

Complex tertiary/Quaternary structures.
Form colloids in water.
Many uses e.g. hormones, antibodies.

30
Q

Describe Collagen.

A

Fibrous protein.
High tensile strength.
Alpha triple helix.
Main component of tendons.

31
Q

Describe Haemoglobin.

A

Water soluble.
Globular protein.
Four beta polypeptide chains and a haem group.
Carries oxygen.

32
Q

Name the factors affecting enzyme-controlled reactions.

A

Enzyme concentration.
Substrate concentration.
Temperature.
pH.

33
Q

Describe how Enzyme concentration affects the rate of enzyme-controlled reactions.

A

Rate of reaction increases as enzyme concentration increases as there are more active sites available.
Increasing past a certain point has no effect on rate of reaction as there are more active sites than substrates so substrate concentration becomes the limiting factor.

34
Q

Describe how Substrate concentration affects the rate ofenzyme-controlled reactions.

A

As concentration of Substrate increases rate of reaction increases as more Active sites are being used at a time.
At a certain point increasing it will have no effect on rate of reaction as all active sites will be in use and so the limiting factor becomes enzyme concentration.

35
Q

Describe how temperature affects the rate of enzyme-controlled reactions.

A

Rate of reaction increases up to optimum temperature where enzymes work fastest.
Beyond that temperature Rate decreases as Enzymes start to denature.

36
Q

Describe how pH affects the rate of enzyme-controlled reactions.

A

Enzymes work within a narrow window of pH to high or above will denature the enzyme and rate will dramatically decrease.

37
Q

Describe Meselson and Stahl Experiment to prove Semi conservative DNA replication.

A

They grew DNA in N-15 for several generations.
They then grew the DNA in N-14 for one generation.
The DNA then all Contained one N-15 and one N-14 strand providing evidence for Semi conservative DNA replication.

38
Q

Name the types of mutation.

A

Substitution.
Insertion.
Deletion.
Duplication.
Inversion.

39
Q

Describe Substitution mutations.

A

Change in one base for another.

40
Q

Describe Insertion mutations.

A

Adding a extra base in to the genetic code.

41
Q

Describe Deletion mutation.

A

Removal of a base from the genetic code.

42
Q

Describe Duplication Mutation.

A

Adding the same base more than once.

43
Q

Describe the result from mutations.

A

Change to the base sequence changes Order of mRNA and can change the order of tRNA unless the mutation is degenerate.

44
Q

Describe the cause of cystic fibrosis.

A

Genetic disorder causing by a mutation of a gene coding for the CFTR protein.

45
Q

Describe what the CFTR protein does.

A

Transports chloride ions out of cells in the respiratory tract and into mucus.
This makes mucus more watery as water moves by Osmosis with the ions.

46
Q

Describe the effects of a faulty CFTR protein.

A

Chloride ions don’t move out of cells so no water moves to mucus.
so mucus becomes very thick.

47
Q

Symptoms of Cystic fibrosis in the Respiratory system.

A

Build up of mucus in the lungs traps bacteria, thus increasing the risk of infection.
Build up of mucus decreases surface area in alveoli and therefore surface area for gas exchange.

48
Q

Symptoms of Cystic fibrosis in the Reproductive system.

A

Cervical mucus prevents sperm from reaching egg.
The sperm duct can become blocked by mucus meaning produced sperm can’t leave the testes.

49
Q

Symptoms of Cystic fibrosis in the Digestive system.

A

The pancreatic duct connecting pancreas to small intestines can become blocked with mucus so digestive enzymes can’t reach small intestines.
Mucus lining in duodenum is very thick reducing absorption of nutrients.
Mucus can cause cysts to form in the pancreas damaging insulin production thus leading to diabetes.

50
Q

Define a Gene.

A

A piece of DNA coding for a specific protein.

51
Q

Define an Allele.

A

One of the different forms of a particular gene.

52
Q

Define a genotype.

A

All of the alleles of an organism.

53
Q

Define a phenotype.

A

The set of observable characteristics of an individual resulting from it’s genotype reacting with it’s enviroment.

54
Q

Define Recessive.

A

An allele that produces a feature only if both copies are present.

55
Q

Define Dominant.

A

An allele that produces a feature even if there is only one copy of that allele present.

56
Q

Define Homozygote.

A

An individual having two identical alleles of a particular gene.

57
Q

Define Heterozygote.

A

An individual having two different alleles of a particular gene.

58
Q

Name the types of Genetic screening.

A

Pre-implantation genetic diagnosis.
Chronic villus sampling.
Amniocentesis.

59
Q

Describe Pre-implantation genetic diagnosis.

A

Embryos created through IVF are tested for genetic disorders before implantation.

60
Q

Describe Chronic villus sampling.

A

Carried out 8-12 weeks into pregnancy.
Sample of embryonic tissue is taken, DNA is analysed.
This is quicker than amniocentesis.

61
Q

Describe Amniocentesis.

A

Carried out 14-16 weeks into pregnancy.
sample of amniotic fluid containing foetal cells is taken and analysed.
Results take 2-3 weeks.

62
Q

Describe the Social and Ethical issues with genetic testing.

A

Risk or harm to foetus.
Outcome of test may lead to abortion- right to life.
Cost of bring up a baby with genetic disorder.
Emotional and mental issues associated with bringing up a baby with mental issues.

63
Q

Describe an Integral membrane protein.

A

A type of protein bound to the membrane with strong interactions.

64
Q

Describe Peripheral membrane proteins.

A

A type of protein that is weekly bound to the membrane.

65
Q

Describe a Amphipathic molecule.

A

A molecule with both Hydrophobic and Hydrophilic properties.

66
Q

Describe an Intracellular enzyme

A

An enzyme that works within cells.

67
Q

Describe an Extracellular enzyme.

A

An enzyme that works outside of cells.

Biology (6 decks)

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