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Biology Unit 1 > Topic 2 - Genes And Health > Flashcards

Topic 2 - Genes And Health Flashcards

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1
Q

What are the two types of nitrogen- containing bases?

A

Purine - two rings. A and G

Pyrimidines - one nitrogen-containing ring. C, T and U

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2
Q

What is the phosphate group made of?

A

(PO4)^3-

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3
Q

What holds together the two strands in DNA?

A

Hydrogen bonds between complementary base pairs

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4
Q

What is the process of DNA replication?

A

DNA helicase splits strands
Free nucleotides form hydrogen bonds
DNA polymerase and DNA ligase join nucleotides together

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5
Q

What is the type of replication involved in DNA replication?

A

Semi conservative

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6
Q

How was it discovered that the method of DNA replication is semi conservative?

A

Grew e. Coli in medium with only 15N
Transferred to medium with only normal 14N
All DNA same density so semiconservative

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7
Q

What are nucleotides made of?

A

Phosphate
Pentose sugar
Organic nitrogenous base

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8
Q

Where does transcription occur?

A

In the nucleus

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9
Q

Where does translation occur?

A

On the surface of ribosomes

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10
Q

Which strand of DNA acts as a template for mRNA?

A

The antisense strand

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11
Q

What is the method of translation?

A 
mRNA engulfed by ribosome
tRNA attaches to specific amino acids
tRNA molecule lines up against matching mRNA on ribosome
Peptide links formed between amino acids
tRNAs unbind to pick up more amino acids
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12
Q

What is a mutation?

A

A change in the genetic code

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13
Q

What are point mutations?

A

One or a small number of nucleotides miscopied

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14
Q

What are chromosomal mutations?

A

Changes in gene position within the chromosomes

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15
Q

What are gene deletion mutations?

A

Where a gene or set of genes are not copied

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16
Q

What is duplication mutation?

A

Where a gene or set of genes are copied multiple times

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17
Q

What are inversion mutations?

A

Where genes switch positions

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18
Q

What is s translocation mutation?

A

Where genes are copied onto the wrong chromosome

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19
Q

What are whole-chromosome mutations?

A

Where an entire chromosome is lost during meiosis or duplicated in one cell by errors in the process

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20
Q

What are anabolic reactions?

A

Reactions that build up new chemicals

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21
Q

What are catabolic reactions?

A

Reactions that break substances down

22
Q

What is enzyme specificity?

A

Only catalyse specific reactions

23
Q

What names do enzymes have?

A

Recommended name - urease
Systematic name
Classification number

24
Q

What is the induced-fit hypothesis?

A

Active site not fully complementary to substrate until substrate fits into it

25
Q

What is an enzymes molecular activity (turnover number)?

A

The number of substrate molecules transformed per minute by a single enzyme molecule

26
Q

What is the temperature coefficient of an enzyme?

A

Rate of reaction at x+10C / rate of reaction at xC

27
Q

What is a genes locus?

A

Its position on a chromosome

28
Q

What is polygenic?

A

Controlled by several interacting genes

29
Q

What is Thalassaemia?

A 
Genetic disorder
Affect haemoglobin polypeptide chains
Prevents formation of either a or B chains in haemoglobin
Symptoms of anaemia
No cure
Treated by blood infusion
30
Q

What is alpha Thalassaemia?

A

Polygenic inheritance
Commonly caused by gene deletion
Various severities
Milder increases malaria resistance

31
Q

What is beta Thalassaemia?

A

Mutations on one gene
Various severities
Most severe: Cooley’s anaemia
Recessive allele

32
Q

What is albinism?

A

Melanin pigment does not form
Polygenic mutations
E.g. Tyrosinase not formed so no melanin produced
Recessive allele

33
Q

What are multifactorial diseases?

A

Cause by combination of genes and lifestyle

34
Q

What is the cell membrane structure?

A 
Phospholipid bilayer (fatty acid tails away from solution
Membrane proteins

Fluid mosaic model

35
Q

What is facilitated diffusion?

A

Diffusion across a membrane through a protein

36
Q

What is an isotonic solution?

A

Same osmotic concentration inside and outside

37
Q

What is a hypotonic solution?

A

Osmotic concentration of solution lower than that of the cells

38
Q

What is Fick’s law?

A

Rate of diffusion

= (surface area * concentration)/exchange membrane thickness

39
Q

What is the structure of an alveoli?

A

Folded sac - high surface area
Lung surfactant - prevents collapse
Thin walls
Steep concentration gradient

40
Q

What is the method of keeping mucus runny?

A

Chloride ions pumped into epithelial cells from surrounding tissue fluid
Chloride ions diffuse into fluid in airways through chloride channels(CFTR channels)
CFTR channel proteins prevent sodium ion exit from airways
Water moves out of cells and mixes with mucus

41
Q

What does cystic fibrosis cause?

A

The CFTR channel to not work

Thick, sticky mucus

42
Q

What are symptoms of cystic fibrosis?

A

Severe coughing fits - mucus build-up in lungs
Breathless
Pathogen build-up in lungs
Prevents digestive enzyme movement to gut - improper digestion and stay in pancreas (damage to pancreas)
More difficult for digested food to be absorbed into blood
Blocked cervix/tube carrying sperm out
Salty sweat

43
Q

What are treatments of cystic fibrosis?

A 
Physiotherapy
Balanced diet
Enzymes taken with food
Drug therapies
Transplant
Infertility treatments
Gene therapy
44
Q

How does gene therapy work?

A

Restriction endonuclease cuts out gene and cuts plasmid
DNA ligase joins plasmid and gene
Recombinant DNA produced
Vector inserted

45
Q

What are problems with gene therapy?

A

Extracellular barriers
Intercellular barriers
Keeping the gene expression going

46
Q

What are methods of genetic screening?

A

Amniocentesis
Chorionic villus sampling
Preimplantation genetic diagnosis

47
Q

How does amniocentesis work?

A

16th week of pregnancy
Amniotic fluid removed
Cells cultured

48
Q

What are the disadvantages of amniocentesis?

A

Late in pregnancy
2-3 weeks before results
1% risk of spontaneous abortion

49
Q

How does chorionic villus sampling work?

A

8-10 weeks of pregnancy

Embryonic tissue taken

50
Q

What are the disadvantages of chorionic villus sampling?

A

2.5-4.8% risk of spontaneous abortion

Can’t detect problems in paternal X chromosomes

51
Q

How does preimplantation genetic diagnosis work?

A

Egg and cell fertilised outside body
Secondary oocyte removed from each embryo
Genetic makeup checked and best implanted

Biology Unit 1 (3 decks)

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