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Biology > Topic 2 - Genes and Health > Flashcards

Topic 2 - Genes and Health Flashcards

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1
Q

What is the life expectancy of a CF sufferer?

A

Mid to late 30s

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2
Q

Symptoms of CF

A

Difficulty breathing, troublesome cough and repeated chest infections. Problems with digestion and maintaining wait.

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3
Q

What is the main problem with cystic fibrosis?

A

Sticky mucus layer in the gas exchange, digestive and reproductive systems.

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4
Q

Why do people have mucus in their airways?

A

To trap dust, debris and microorganisms. Continually removed by beating cilia that cover the epithelial cells

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5
Q

What major effects does the sticky mucus in the lungs have?

A

It increases the chances of lung infection and it makes gas exchange less efficient

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6
Q

What are epithelial cells?

A

Outer surface of many animals, line cavities and tubes. Tissue know as epithelium. One or more layers sitting in a basement membrane.

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7
Q

How does sticky mucus increase the chance of a lung infections?

A

Trap microorganisms, some are pathogens. Cilia can’t move mucus. Harmful bacteria thrive in anaerobic conditions

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8
Q

Why is there lie oxygen in the mucus?

A

Diffuses slowly through, epithelial cells use up more oxygen in CF patients.

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9
Q

What is gas exchange dependant on?

A

Large surface area, high concentration gradient, thickness of surface.

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10
Q

What is Fick’s law?

A

Rate of diffusion o~ (surface area x diff. In conc.)/thickness of surface

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11
Q

How does sticky mucus effect gas exchange?

A

Blocks narrow airways (bronchioles) reducing alveoli providing surface area. Air may pass when breathed in but not out, causing over inflation which can damage the elasticity of the lungs.

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12
Q

Why is CF mucus so sticky?

A

Contains less water.

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13
Q

Structure of an amino acid?

A

(NH2)C(HR)COOH
NH2 is the Amine group.
R is the residual group which varies
COOH is a carboxylic acid group

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14
Q

What determines protein shape?

A

Hydrophobic/Phillic sections, hydrogen bonds, disulphide bonds, ionic bonds

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15
Q

What is a quaternary structure?

A

Protein made up of multiple polypeptide chains.

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16
Q

What is a conjugated protein?

A

Has another chemical group associated with the polypeptide chains.

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17
Q

What is a globular protein?

A

Spherical shape, soluble because hydrophilic on outside. E.g enzymes.

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18
Q

Fibrous proteins

A

Long chains, cross linked. Insoluble, important structurally.

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19
Q

What is the cell membrane?

A

Phospholipid bilayer.

20
Q

Nucleotide bond

A

Phosphodiester bond

21
Q

Effect of CF on digestive system?

A

Problems with digestion and absorption
High basal metabolic rate
Require higher intake than normal
Digestive enzyme supplements

22
Q

Why is digestive system affected?

A

Mucus blocks pancreatic duct. Impairs release of digestive enzymes. Reduces rate of digestion because of lower enzyme conc in small intestine. Also direct damage caused to pancreas by trapped enzymes.

23
Q

Effect of CF on reproductive system?

A

Mucus plug develops in the cervix. Males commonly lack sperm duct, or it can be blocked by mucus.

24
Q

Structure of DNA?

A

Phosphate, deoxyribose and organic base joined by condensation reactions.

25
Q

Structure of RNA?

A

Single strand not double helix. Ribose not deoxyribose. Uracil replaces thymine

26
Q

What separates the cytoplasm and the nucleus?

A

Nuclear envelope

27
Q

What are the bases on tRNA called?

A

An anticodon

28
Q

Why is replication semi conservative?

A

Each new strand molecule contains one new strand and one old strand

29
Q

How did the experiment prove semi conservation?

A

Heavy and light isotopes of nitrogen. First replication showed that thee was no heavy DNA left so couldn’t be conservative. Second replication had some light and some medium, proving semi conservative.

30
Q

Position on chromosome is the…

A

…locus.

31
Q

Homozygous?

A

Two identical copies of an allele.

32
Q

Heterozygous?

A

Two different alleles

33
Q

Phenotype?

A

Characteristic caused by the genotype.

34
Q

What is monohybrid inheritance?

A

Characteristic controlled by only one gene.

35
Q

How does gene therapy work?

A

Normal allele inserted into target cell. Normal form of gene transcribed and translated. Functioning protein is produced.

36
Q

How are genes inserted using viruses?

A

DNA sequence allowing replication removed. Replace with normal allele and promoter sequence. Vital DNA either incorporated into cell DNA or remains independent.

37
Q

What is a promoter sequence?

A

Initiates transcription and translation of a gene in gene therapy

38
Q

Problem with use of virus as a vector?

A

Can produce inflammatory response.

39
Q

How are genes inserted using liposomes?

A

Copy of normal allele inserted into loop of DNA called a plasmid. Plasmids combined with liposomes. Positively charges heads combine with negatively charged DNA to form a liposome DNA complex.

40
Q

What is a plasmid?

A

A loop of DNA

41
Q

What’s is a liposome?

A

Spherical phospholipid bilayer

42
Q

How a liposome treatments taken in by the patient?

A

Aerosol breathed in using nebuliser. Fuse with epithelial dell membranes and carry DNA into cells.

43
Q

What are the two embryonic screening methods?

A

Amniocentesis and chorionic villus sampling.

44
Q

What is amniocentesis?

A

Needle inserted into amniotic fluid to collect free cells. 15-17 weeks, up to 1% risk of miscarriage

45
Q

What is chorionic villus sampling?

A

Small sample of placenta tissue is removed. 8-12 weeks but 1-2% risk if miscarriage.

46
Q

What is PIGD?

A

Preimplantation genetic diagnosis. Test one of 8/16 cells in IVF.

Biology (7 decks)

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