Topic 2: Genes And Health Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

What is CF?

A

a sticky mucus lining tubes and ducts in the gas exchange, digestive and reproductive organs, causing a cough, chest infection etc.
CF is caused by a faulty transport protein in the membrane of EP cells. membranes acts a barriers controlling what enters and leaves

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are epithelial cells?

A

They line cavities and tubes in the surface of internal organs.
EP cells work together as a tissue called epithelium.
A basement membrane consists of protein fibres in a protein-carb matrix.
Layers of EP cells sit on a basement membrane which secures the epithelium to connective tissue beneath

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what are ciliated epithelial cells?

A

columned shaped, covering many surfaces.

projections called cilia beat to move mucus up to the throat so it can be swallowed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Describe active transport

A

uptake of molecules against a conc gradient using energy from respiration.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the molecular structure of a globular protein and how does its structure relate to its function?

A

the polypep chain is folded into a compact sphere.
Soluble due to hydrophllic side chains that protect from the outside of the molecules, therefore they’re important in metabolic reactions.
3D shapes are essential to bind with other substances

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the molecular structure of a fibrous protein and how does its structures relate to its function?

A

Several long polypep chains can be cross linked and wind round each other to form a rope like strand held by H bonds between chains.
Structurally important, strong, insoluble proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Describe what happens to a cell in hyper, hypo and isotonic solutions.

A

hyper: cell is surrounded by high osmotic conc, so water leaves the cell.
iso: no net movement
hypo: cell surrounded by more water, water enters the cell in a net movement

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is facilitated diffusion?

A

charged molecules can’t diffuse easily across the non polar centre of the bilayer, so they use channel proteins that create pores to diffuse. It is passive, and increases diffusion rate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are carrier proteins?

A

facilitate diffusion of large polar molecules.
A molecule/ ion combines with the binding site of a carrier protein.
ATP then transfers a phosphate group to the carrier protein on the inside of the membrane.
The carrier has a shape change, carrying and then releasing the molecule in the membrane before reverting back to its original shape.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What direction to Active transport systems move in? What other processes use AT?

A

Active transport systems only move in one direction!

its involved in impulse transmission, muscle contraction, absorption of mineral salts, excretion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the primary structure of a protein?

A

number and sequence of aa in a polypep chain.
22 aa= huge protein variety.
This determines the properties of the protein which determines function
AA link by peptide bonds in condensation reactions to form a polypeptide

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the secondary structure of a protein?

A

The aa sequence twists the polypep chain. It is the way the primary structure arranges itself in space. It has alpha helix and beta pleated sheets that allow H bonds to form.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the tertiary structure of a protein?

A

How secondary structure arranges itself in space. polypeps consist of a helix sections, beta pleated sheets and some unordered regions.
There are more interactions and bonds between R groups. Eg H and disulphide bridges. Hay some hydrophilic and hydrophobic interactions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the quaternary structure of a protein?

A

when more than 1 polypep chain is arranged together. Not all proteins have this.
Haemoglobin has 4 pp chains
Many interactions and bonds between R groups occur to form this structure.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What happens when 2 amino acids join?

A

they form peptide bonds during condensation reactions to form a dipeptide.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Describe R groups in amino acids

A

they can form interactions/ bonds between protein molecules.
They form active sites and receptors in membranes.
They affect solubility

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Describe cholesterol

A

organic lipid, essential component of the membrane. It fits between the phospholipids, maintaining membrane strength.
At higher temps it stabilises cell membrane structure, and at lower temps maintains fluidity. The more unsaturated the lipids, the more fluid it will be.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are conjugated proteins?

A

have a chemical group associated w/ their polypep chain. Eg haemoglobin has an Iron containing heme group.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is the importance of H bonds in protein folding?

A

H bonds cause alpha helix and beta pleated sheets to join.
H bonds are involved in the tertiary structure.
H bonds add strength and stability to the protein structure.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is the importance of hydrophilic and hydrophobic amino acid side groups in protein folding?

A

hydrophobic side groups are on the inside tissue. They ensure the protein is rigid and strong.
Hydrophyllic amino acid side groups are on the outside tissue. They allow a soluble protein to be useful in transporting substances.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Give 3 characteristics of gas exchange surfaces

A

Thin blood vessels
Lots of air spaces.
Covered in capillaries for good blood supply
These factors all decrease diffusion distance, increase diffusion of respiratory gases and maximise SA:V ratio.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Describe how mammals breathe in

A

Diaphragm relaxes, which contracts the intercostal muscles.
Contraction of external muscles raises ribcage.
Lung volume increases as air moves in.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

How is CO2 transported in the blood?

A

it is dissolved in plasma

it is combined w/ haemoglobin.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Explain what is meant by Fluid Mosaic

A

There are randomly arranged proteins in the bilayer.

The phospholipids forming the bilayer are free to move

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Explain what is meant by partially permeable

A

allows only certain substances to move through by diffusion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What consists of the FMM?

A

Proteins, cholesterol, phospholipid bilayer and channel proteins

glycolipd: lipid molecules w/ attached polysaccharides
glycoproteins: protein molecules w/ attached polysaccharides

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What occurs in the cell membrane when hay too much water in the mucus?

A

-Na+ ions are pumped into the tissue fluid. This causes a lack of Na+ ions in the cell, so Na diffuses through a channel protein into the cell.
Buildup of Na+ ions in tissue fluid creates an electrical gradient, attracting Cl- ions to diffuse into the tissue fluid.
NaCl buildup means water moves out of the cell by osmosis. Therefore water moves out of the mucus into the cell and gets less watery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What occurs in the cell membrane when hay too little water in the mucus?

A

Cl- ions are pumped into the cell across the basal membrane.
Cl- ions leave the cell via a CFTR channel protein via facilitated diffusion.
Buildup of Cl- ions creates an electrical gradient, so Na+ ions diffuse down the gradient into the mucus.
NaCl buildup means that h20 moves out of the cell by osmosis into the mucus. This in turn causes h20 from the tissue fluid to move into the cell to replace lost water.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What occurs in the cell membrane of a patient w/ CF?

A

The Na+ channel is always open, meaning Na+ ions constantly move into the cell. Cl- ions can’t be transported across the apical membrane bc of faulty CFTR channel protein.
Na+ ions move to the tissue fluid via diffusion. A buildup of + charge creates an electrical gradient, so Cl- ions diffuse down. NaCl buildup causes h20 to move out of the cell by osmosis. Now, lack of h20 in the cell means water from already sticky mucus to leave and enter the cell.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

what is a result of excessively sticky mucus?

A

Cilia cant move the mucus , reducing effective ventilation of the alveoli.
Mucus frequently gets infected. Phagocytosic cell break down and their DNA makes mucus even stickier, causing downward spiral of lung damage and inflammation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

State the role of enzymes and the pancreas in digestion

A

Salivary glands, the pancreas and liver secrete enzymes into the lumen of the gut where they act as catalysts etc

32
Q

Describe exocrine glands

A

Exocrine glands secrete into the duct, which carries away secretions to where they are required onto surface epithelium.

33
Q

Describe endocrine glands

A

Cells of endocrine glands secrete directly into the blood. There are no ducts, they release things like hormones internally

34
Q

What is the effect of CF on the digestive system?

A

The mucus blocks the pancreatic duct, impairing enzyme release and therefore slowing digestion rate. Blocked enzymes also damage pancreatic cells, leading to cysts of hard, fibrosed tissue that affect insulin production and lead to a form of diabetes

35
Q

What is the role of osmosis on the mucus?

A

Mucus produced by the cells in the lining of the airways is kept runny by the net movement of water in and out.
Runny mucus is produced to trap dust particles and pathogens that enter the respiratory system.

36
Q

What is a metabollic pathway?

A

a sequence of enzyme controlled reactions.

Products may also affect the pathway

37
Q

What are the 2 types of metabollic pathways?

A

catabolism: breakdown of complex molecules into smaller, simpler ones
anabolism: sysnthesis ofcomplex molecules form simpler ones

38
Q

Describe the lock and key hypothesis and the induced fit theory

A

In the lock and key, substrate molecules form temporary bonds w/ amino acids of the active site so they can react easily. The enzyme is unchanged after the reaction.
In induced fit theory, active sites are slightly flexible- they change shape to better fit the substrate before returning back to OG shape after the reaction.

39
Q

What is the effect of CF on the reproductive system?

A

mucus plug develops on the cervix, reducing pregancy chance. Males commonly lack the sperm duct on both sides, so sperm cannot leave the testes. if the vas deferens is present it is partially blocked by a sticky mucus layer.

40
Q

how do people sweat?

A

CFTR and ENaC channel proteins allow reabsorption of sodium chloride from sweat as it moves up the duct towards the surface.
Sweat is therefore released onto the skin as hypotonic

41
Q

Describe and explain the structure of DNA

A

DNA is 2 antiparallel polynucleotide chains coiled into a double helix, held by H bonds between bases.
The nucleotides join in condensation reactions.
Each nucleotide has a nitrogenous base, phosphate group and deoxyribose sugar. The bases are A,T,C,G.
Phosphodiester bonds hold the phosphate and sugar backbone.
The phosphate and deoxyribose sugar are constant, meaning they dont change. One complete turn= 10 base pairs

42
Q

In the structure of DNA, what are the 2 types of nitrogenous bases?

A

Purines and Pyrimidines.
Purines= 2 nitrogen containing rings. A and G are purines and they form 3 H bonds
Pyrimidines= 1 nitrogen containing ring, T and C. T and C form 2 H bonds
The bases pair by H bonding, purine to pyrimidine. This is the way the DNA molecule arranges itself in space

43
Q

Describe transcription

A

DNA helicase unzips the DNA
RNA polymerase attaches to a non coding region in front of a gene.
Free RNA molecules form complimentary base pairs w/ DNA strand.
RNA polymerase joins nucleotides juntos to make mRNA
mRNA leaves the nucleus via a pore

44
Q

How is DNA different to mRNA?

A

mRNA is single stranded, uses U instead of T, contains a ribose sugar and is shorter

45
Q

Name the chemical reaction that occurs when mRNA is formed from nucleotides

A

Condensation reactions

46
Q

Describe translation

A

Occurs on the ribosome
rRNA joins mRNA to the ribosome.
2 tRNA molecules are in position on the ribosome, and they contain anticodons.
tRNA binds to mRNA using complimentary base pairing.
The tRNA brings a specific amino acid to the ribosome.
AA join in peptide bonds to form a polypeptide.
The ribosome moves along the mRNA until a stop codon

47
Q

Describe how a cell uses mRNA

A

mRNA is used in translation. Translation is the second stage of p.s and occurs on the ribosome
rRNA joins mRNA to the ribosome.
2 tRNA molecules are in position on the ribosome, and they contain anticodons.
tRNA forms comp base pairing w mRNA.
The tRNA brings a specific amino acid to the ribosome.
AA join in peptide bonds to form a polypeptide.
The ribosome moves along the mRNA until a stop codon

48
Q

Describe DNA replication

A

It is when DNA must copy itself to pass on genetic info.

It must do this with a few errors as possible, so is very accurate.

49
Q

Explain what is meant by semiconservative replication

A

It is making more DNA.
DNA is unzipped.
Strands separate and each strand acts as a template.
Free nucleotides line up against comp base pairs.
DNA polymerase joins new nucleotides together.
DNA ligase joins DNA to form two identical double strands of DNA.
Each one consists of one new strand and one original strand.
This is semi conservative replication

50
Q

Describe the DNA experiment conducted by Meselsohn and Stahl

A

Bacteria were grown in heavy nitrogen (N15) so that all of the DNA in the bacteria was heavy.
The bacteria were removed and then placed in light nitrogen and were left to reproduce for several generations so that all subsequent DNA produced would be lighter. DNA from the bacteria was then removed and centrifuged.
DNA contained different proportions of heavy and light nitrogen seen as separate bands after centrifugation.

51
Q

What are point mutations?

A

Point mutations are the miscopying of 1 or a small number of nucleotides.
3 types of point mutations are substitution, insertion and deletion
As several codons code for the same aa, substitution generally has no effect, so it is a silent mutation
In addition or deletion of a base, all other bases move up or down by one, causing a frame shift- all codons and therefore all aa are different.

52
Q

What are chromosomal mutations?

A

Changes in the position of genes in the chromosome.
In gene duplication, extra copies of genes are generated on the chromosome.
In gene inversion, genes can swap places
In translocation, a fragment from 1 chromosome breaks off and attaches to another chromosome.

53
Q

What are whole chromosome mutations?

A

An entire chromosome is lost during meiosis or duplicated in 1 cell by errors in the process

54
Q

Describe mutations that lead to sickle cell anemia

A

T is replaced by A along a gene that codes for one of the pp chains in haemoglobin. The mRNA produced from this DNA contains codon GUA NOT GAA. This results in the non polar aa valine instead of polar glutamic acid.
Haemoglobin is therefore less soluble. When 02 levels are low, molecules form long fibres that stick juntos in the RBCs, distorting its shape. Sickle shaped cells carry less 02 and block blood vessels

55
Q

Describe CF mutations

A

100s of diff mutations cause CF.
These can affect the CFTR channel protein- eg ATP isn’t able to bind or the channel shape is distorted.
The most common mutation is the deletion of 3 nucleotides called the DFS08 mutation. This causes the loss of aa phenylaline, so the protein is misfolded. Mutations are passed from parent to offspring

56
Q

What is the difference entre geno and phenotype?

A

genotype: genetic info passed from parent to offspring
phenotype: chemical and phys characteristics you have as a result of your genotype and environment

57
Q

What is karyotype?

A

The standard arrangement for a full set of chromosomes in a cell for analysis.

58
Q

What is the position of a gene called?

A

The position of a gene is a locus.

Alleles code for different versions of the same gene, so they’re found at the same locus on different chromosomes

59
Q

Describe mutations that lead to thalassaemia

A

Hay a range of thalassaemias affecting pp chains of the haemoglobin molecule. The disease prevents the formation of alpha or beta haemoglobin chains. Haemoglobin then cannot carry enough 02, causing anaemia symptoms. Several mutations can occur, such as a recessive allele on chromosome II. Thalassaemia cannot be cured, but is treated w/ blood transfusions

60
Q

describe albinism and Huntington’s disease

A

In albinism, melanin doesn’t form, inherited by a recessive allele.
In Huntington’s disease, a dominant faulty allele causes shaking, erratic body movements and severe mental deterioration after 40.

61
Q

What is the difference between co-dominance and incomplete dominance?

A

both alleles for a trait are dominant.
In codominance a heterozygous individual expresses both traits without any blending, eg blood type
In incomplete dominance a heterozygous individual blends the two traits, eg white and red roses produce pink offspring.

62
Q

What are the uses of genetic screening?

A

If genetic conditions are diagnosed early, survival chance increases.
You can identify any disease carriers using a blood sample or cheek cell sample.

63
Q

Discuss the social and ethical issues related to genetic screening

A

The idea of rights and duties: if the foetus has a right to life, it is the mothers duty not to abort it.
Leading a virtuous life: the best way to make ethical decisions using seven virtues eg justice, faith or hope.
Utilitarianism: decisions that maximise the amount of good, eg abortion to prevent suffering.
Making decisions for yourself: a.k.a. informed consent. You can autonomously decide to be selfish. People with dementia/ foetus cannot give informed consent so you decide on their behalf

64
Q

What are intracellular and extracellular enzymes?

A

Intracellular enzymes catalyse reactions inside cells

Extracellular enzymes catalyse reactions outside of cells.

65
Q

Describe ultrasound.

A

High frequency soundwaves build a picture on the screen, confirming a viable pregnancy.
Ultrasound locates the placenta, monitors growth and detects major abnormalities

65
Q

What is amniocentesis?

A

20 cm³ of amniotic fluid removed.
Fetal and blood cells are recovered using centrifuge.
Cells are cultured for 2-3 weeks.
Genetic defects and sex identified.
Occurs in the 15-17th week of pregnancy, but results take 2-3 weeks
1% risk of spontaneous abortion.
termination could occur later in pregnancy- more trauma

66
Q

Describe chorionic villus sampling

A

Embryonic tissue is taken from the developing placenta.
It is a larger sample, a wide range of tests can take place.
Is done 8 to 12 weeks in pregnancy with faster results.
BUT 1 to 2% risk of spontaneous abortion.
Paternal X chromosomes are inactivated in foetal placental cells so defects will be undetected

67
Q

Describe preimplantation genetic diagnosis (PGD)

A

Embryos are produced in a petri dish using sperm and eggs.
A single cell is removed, it’s alleles checked. The desired embryo is then selected for implantation.
But £, stressful, only 30% success rate for under 35s

68
Q

Describe non-invasive prenatal diagnosis (NIPD)

A

NIPD analyses DNA fragments in the mothers blood plasma during pregnancy.
Whilst most cell-free DNA is the mothers, 10-20% is from the embryo.
Cell free fetal DNA (Cff DNA) becomes detectable at high levels in the mother at 7-9 weeks.
Used to test for a limited number of single gene disorders like CF or down syndrome

70
Q

What is exocytosis?

A

Exocytosis is the release of substances from the cell, and it involves vesicles
Vesicles are small sacs that hold substances.
Vesicles fuse with the cell membrane and the contents are released out of the cell.

71
Q

Draw an amino acid

A

N—-C—–C
2 hydrogens are joined to the N on the left, called the amine group.
1 hydrogen is joined to the top of the carbon in the centre, and 1 R group is joined on the bottom.
double O bond is joined on the top right of the C, and OH joined on the bottom right. This is the carboxylic acid group.

72
Q

explain the genetic code

A

The genetic code is non overlapping, degenerate and universal.
Non-overlapping means the codons are separate from each other.
Degenerate means more than one code can be used for a specific aa.
Universal means it is found in all organisms.

73
Q

What is endocytosis?

A

Endocytosis: substances are taken into the cell via the creation of a vesicle in the cell surface membrane.
The cell membrane engulfs the substance

74
Q

Describe mutations and what they are caused by

A

Mutations are random changes to the base sequence of DNA.
Chemicals, radiation or errors during interphase can cause mutations
Mutation can be neutral (silent mutations), harmful or beneficial

75
Q

How can gene therapy treat cystic fibrosis?

A

gene therapy alters the genotype of cells affected by the condition
Normal alleles of the gene are inserted into cells using a vector
The normal form of the gene is transcribed and translated producing a functional protein