Topic 2: sub 1 Flashcards

1
Q

exchange surfaces:

A

-multicellular organisms require gas exchange systems in order to obtain sufficient oxygen for respiring cells, and to expel the carbon dioxide created by these cells
-in order to maximise the rate of exchange of substances, gas exchange surface are adapted to have a:
-large surface area:volume ratio- the larger the ratio, the greater the surfacearea for the organism to carry out exchange, so a faster transfer of substances across the surface
-short diffusion pathway- a short distance for substance to move across means they move faster
-steep concentration gradient- a large difference in concentrations between 2 areas means diffusion of particles from an area high concentration to an area of lower concentration occurs faster

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2
Q

Fick’s Law:

A

-the rate of diffusion is also dependent on the main features
-this is shown by Fick’s law that states that the rate of diffusion is proportional to the surface area multiplied by difference in concentration, divided by the length of diffusion pathway
Rate of diffusion (a) surface area x concentration difference/distance

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3
Q

the mammalian lung:

A

-when we breathe, air enters the mouth, passes into the trachea which splits into 2 bronchi; one on the left side and one on the right side of the body
-each broncus branches out into smaller bronchioles which end in tiny air sacs called alveoli, where gas exchange takes place
-deoxygenated blood flows into the alveoli, where carbon dioxide diffuses out of the capillary, through the alveolar membrame and into the surrounding air, down a concentration gradient
-oxygen moves in the opposite direction from the surrounding air and into the blood steam, making the blood oxygenated

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4
Q

the mammalian lung: alveoli adaptations

A

-the extensive branching of vessels in the lungs means there are many alveoli-over 300 million in an average adult- this gives them a very large surface area which increases the rate of diffusion of oxygen into the blood, and carbon dioxide out of the blood
-the alveoli are adapted further, they have a rich blood supply from surrounding capillaries which mantains a steep concentration gradient between the blood in the capillaries and the air entering the lungs, which again increases the rate of diffusion
-alveoli also have a moist outer lining, allowing gases to dissolve and move across their membrame faster
-finally, alveoli have a wall of only one cell thick and pores in the endothelium, this creates a short distance for the gases to travel over so they can diffuse quickly

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5
Q

cell membrames: structure

A

-all cells and organelles are surrounded by a partially permeable membrame composed of a sea of phospholipids with protein molecules between the phospholipid molecules
-the main function of the membrame is controlling the movement of substances in and out if the cell/organelle
-however, it also contains receptors for other molecules, such as hormones, and enables adjacent cells to stick together
-the main structure of a membrame is the phospholipid bilayer-2 rows of phospholipids (lipids made from 1 molecule of glycerol, 1 phosphate group and 2 fatty acid chains)
-the phosphate groups are hydrophilic (water loving), so form the outside of the bilayer
-whereas fatty acid chains are hydrophobic (water hating), so lie in between the 2 rows of phosphate heads
-the fatty acid chains ae non-polar, allowing non-polar molecules like carbon dioxide to pass straight through the phospholipid bilayer
-while polar substance, like water, have to move though channel proteins, since they aren’t soluble in the fatty acid tails

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6
Q

Fluid Mosaic Model:

A

-the fluid mosaic model is the name given to the model suggested for the structure of the cell membranes
-it is described as ‘fluid’ due to the fluidity of the phospholipid bilayer which allows all molecules to movel freely within it
-the cell membrame also contains a ‘mosaic’ of transport proteins, receptor proteins, enzymes, structural and recognition proteins of varying shapes and sizes
-cholesterol molecules are also found in the bilayer, these give the membrame stability and reduce its fluidity
-scientific models such as this one are based on data and results of investigations by scientists
-models like this may be update over time, the way the model of the atom was updated numerously, as new data and discoveries are made

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7
Q

transport of substances:

A

-the movement of molecules through cell membrane depends on the properties of the molecule (for instance its size and whether its polar or nonpolar) as well as the requirements of the cell
-movement can be passive (require no energy) or active (requires energy released from respiration)

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8
Q

transport of substances: diffusion

A

-> is the passive movement of molecules down a concentration gradient, from an area of high concentration to an area of lower concentration through a partially permeable membrame
-these are specific types of diffusion- simple diffusion, facilitated diffusion and osmosis

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9
Q

transport of substances: simple diffusion

A

-> is the passive movement of small, non-polar lipid soluble molecules, such as carbon dioxide and oxygen, from an area of high concentration to an area of low concentration
-the molecules move directly through the phospholipid bilayer

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10
Q

transport of substances: facilitated diffusion

A

-> requires a membrame protein to transport polar molecules, charged and water soluble molecules across the membrame
-since these molecules cannot pass through the non-polar inside of the bilayer

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11
Q

transport of substances: active transport

A

-> can transport all types of molecules through carrier proteins from an area of low concentration to an area of high concentration
-this process moves particles against the concentration, and so requires energy in the form of ATP

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12
Q

transport of substances: exocytosis + endocytosis

A

-> transport large particles
-the particles are enclosed in vesicles made from the cell surface membrane and transported into the cell/ organelle in endocytosis
-in exocytosis, vesicles containing large particles are fused with the membrane and leave the cell/organelle

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13
Q

osmosis: a special type of diffusion

A

-> is the net diffusion of water molecules from an area of higher water potential to an area of lower water potential, through a partially permeable membrane
-in the case of osmosis, ‘water potential’ is used to describe the relative concentration of water molecules
-water potential is the tendency of a solution to gain or lose water
-a high water potential means there is a low concentration of solute, in other words a high concentration of water
-pure water has the highest water potential possible
-water potential is measured in pascals, pure water has a value of 0 pascals and all other values are negative, as water potential becomes lower

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14
Q

osmosis: isotonic, hypetonic and hypotonic

A

isotonic: solutions have equal osmotic pressures, so there is not net water movement, and the size of the cell remains the same
-hypotonic: solutions have a lower osmotic pressure, so water will enter the cell, and the cell will swell
-hypertonic: solutions have a high osmotic pressure, so water will leave the cell, and the cell will shrink

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15
Q

membrame proteins:

A

-carrier proteins: can move particles through the membrame by both active transport and facilitated diffusion
-channel proteins: forms pores in the membrame for polar particles to move through by facilitated diffusion
-extrinsic proteins: a membrame protein that goes through only 1 layer of the bilayer
-intrinsic proteins: a membrame protein that goes through both layers of the bilayer

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16
Q

Enzymes:

A
  • Enzymes are biological catalysts that increase the rate of reaction by lowering the activation energy (the energy needed for a reaction to
    occur) of the reactions they catalyse, including both intracellular (within cells) and extracellular (outside the cells) reactions
    -part of the enzyme is known as the active site, this is where the reaction with the substrate takes place
    -since the enzymes are proteins, they have a very specific 3D shape due to the bonding in their tertiary structure
    -this means enzymes have a specific and complementary shape to the substrate they bind to, meaning that only one type of substrate fits into the active site of the enzyme
    -when the enzyme and substrate form a complex (an enzyme-substrate complex), the tertiary structure of the enzyme is altered so that the active site of the enzyme fits around the substrate
    -this is called the induced fit model
    -once an enzyme-substrate complex is formed and there is sufficient energy, the reaction can take place, often breaking down the substrate or combining 2 to build up larger molecules
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17
Q

Nucleotides:

A

-both deoxyribonucleic acid (DNA) and ribonucleic acid (RNA) are polymers of nucleotides which consist of:
1. A Penrose sugar - a 5 carbon sugar
2. A nitrogen contIning organic base
3. A phosphate group
-nucleotides join together by phosphodiester bonds formed in condensation reactions
-the phosphodiester bonds are formed between the phosphate groups and a carbon on the pentose sugar of adjacent nucleotides

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18
Q

Nucleotides: DNA

A

-the components of a DNA nucleotide are a pentose sugar called deoxyribose, a phosphate group and one of the organic bases adenine, cytosine, guanine or thymine
-adenine and guanine both have double ring structure and are classified as purine bases

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19
Q

Nucleotides: RNA

A

-the component of an RNA nucleotide are a pentose sugar called ribose, a phosphate group and one of the organic bases adenine, cytosine, guanine or uracil
-thymine, uracil and cytosine all have single ring structure and are classified as pyramidine bases

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20
Q

Complementary base pairing:

A

-a DNA molecule is a double helix composed of 2 polynucleotides chains running antiparallel to each other, joined together by hydrogen bonds between the 2 strands
-2 hydrogen bonds form between the complementary bases adenine and thymine, and 3 hydrogen bonds form between the complementary bases cytosine and guanine
-this bonding is essential for DNA to maintain a stable structure, as it prevents the chemical bases being corrupted by other outside chemicals or forces
-the bonding is also what twists the strand into the double helix shape
-RNA is a single-stranded polynucleotide chain, so does not have hydrogen bonding between the bases within it, however its bases are still complementary to each other- cytosine and guanine, and adenine and uracil are complementary

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21
Q

DNA replication: and the process

A

-the semi-conservative replication of DNA ensures genetic continuity between generations of cells, meaning that genetic information is passed on from one generation from the next
-the process is described as ‘semi-conservative’ because each strand formed contains 1 new strand, and 1 original strand
-the steps of semiconservative replication of DNA are as follows:
1. The double helix unwinds and the enzyme DNA Helicase breaks the hydrogen bonds between the complementary bases, separating the two strands of DNA
2. One of the strand is used as the template and complementary base pairing occurs between the template strand and free nucleotides that attach to the exposed strands
3. The enzyme DNA polymerase moves along the strands, joining the adjacent nucleotides by forming phosphodiester bonds in condensation reactions

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22
Q

Meselson and Stahl’s experiment:

A

2 scientists names Matthew Meselson and Franklin Stahl did an experiment to prove that DNA is replicated semi-conservatively, this is what they did:
1. They began by growing bacteria in a broth containing only one isotope of nitrogen- Nitrogen-15, a heavier isotope than the more abundant Nitrogen-14
-after allowing the bacteria to grow and take the heavy nitrogen into their DNA they isolated the DNA and centrifuged it; the DNA settles at a point equal to it’s density
2. The bacteria containing only ^15N DNA were transferred to a broth now only containing a ^14N medium
-since DNA replicates semi-conservatively, after the first replication of DNA, each double helix contained 1 ^14N strand, and 1 ^15 strand, so settled at a different point when centrifuged
-the scientists observed this was between the settling points of ^15N only DNA, and ^14N only DNA, so concluded the DNA must contain one strand of each
3. They then carried out a second replication of the DNA, still in the ^14N medium, the results of the centrifuge conformed the semi-conservative hypothesis still, with half of the DNA settling out at the ^14N only point, and half of the DNA settling with a combing ^14N and ^15N point

23
Q

The genetic code:

A

-the order of nucleotide
bases on DNA makes up the genetic code which consist of triplets of bases; each triplet of bases codes for a particular amino acid and is known as a codon
-for instance, the codon GCA codes for the amino acid alanine
-in ribosomes during protein synthesis the amino acids are joined together by peptide bonds and form a polypeptide chain
-therefore, a gene is a sequence of bases on a DNA molecule that codes for a sequence of amino acids in a polypeptide chain
-however, not all of the genome codes for proteins-the non-coding sections of DNA are called introns and the coding regions are called exons

24
Q

Features of the genetic code:

A

-the genetic code is-overlapping meaning that each triplet is only read once and triplets don’t share any bases
-genetic code is also degenerate meaning that more than one triplet codes for the same amino acid, this reduces the number of mutations which are mistakes in the base sequence such as base deletion, insertion or substitution
-for instance, GCA, GCC, GCG, and GCU all code for the amino acid alanine
-the genetic code contains start and stop codons which either start or stop protein synthesis

25
Protein synthesis:
-there are 2 stages which convert the sequence of bases on DNA into a polypeptide chain; the DNA must first be copied into mRNA (transcription) which then leaves the nucleus and travels to a ribosome -this is where the RNA is read and translated into amino acids which are joined to make a polypeptide (translation)
26
Protein synthesis: Transcription
-during transcription, a molecule of mRNA is made in the nucleus: 1. The enzyme RNA polymerase attaches to the DNA at the start of the gene (which is signified by a start codon), it breaks the hydrogen bonds between the complementary bases that hold the 2 strands together, this uncoils and separates the 2 strands so they are exposed 2. One of the DNA strands is used as a template to make the mRNA molecule, the template is called the antisense strand 3. RNA polymerase lines up free nucleotides which attach to the template strand by complementary base pairing; adjacent nucleotides are joined by phosphodiester bonds, thus forming a single-stranded molecule of mRNA 4. Once the RNA polymerase reaches a stop codon, the mRNA detaches from the template strand, it then moves out of the nucleus through a pore and attaches to a ribosome in the cytoplasm, which is the site of next stage of protein synthesis called translation
27
Protein synthesis: Translation
-during translation, a polypeptide sequence is translated from the mRNA strand: 1. mRNA attaches to a ribosome and transfer RNA collect amino acids from the cytoplasm and carries them to the ribosome, tRNA is a single stranded molecules with an amino acid (Methionine) bind site at one end (so it can only carry one type of amino acid), and a triplet of bases the other (called an anticodon) which is complementary to a triplet of bases on the mRNA strand (the codon) produced during transcription 2. The tRNA molecule attaches itself to mRNA by complementary base pairing-within the ribosome two molecules of RNA attach to the mRNA strand at a time 3. The amino acids attaches to two the tRNA molecules join by forming a peptide bond; then the tRNA molecules detach themselves from the amino acids, leaving them behind as more amino acids attach to the chain 4. This process is repeated leading to the formation of a polypeptide chain until a stop codon is reached on mRNA, which ends the process of protein synthesis
28
What is a gene?
-> a sequence of bases on a DNA molecule that codes for a sequence of amino acids in a polypeptide chain
29
Types of RNA:
-mRNA (messenger): carries the information (sequence) to produce a protein from a gene -rRNA (ribosomal): is part of ribosome, which are ribonucleoproteins (protein+DNA) -tRNA (transfer): carries the amino acids
30
Genetic Mutations:
-since proteins are coded for by the sequence of bases on DNA, any errors made in copying the DNA during replication can affect the polypeptide produces, since a different amino acid means different folding and bonding so a different tertiary structure and 3D shape -in some cases this can result in non-functional proteins and lead to cancer, for instance if a proteins that slows cell division is non-functional, this can lead to the formation of a cancerous tumor -genetic disorders are also often caused by a mutation, such as the mutation which leads to production of sticky mucus and causes cystic fibrosis or sickle cell anaemia, in which a mutated form of haemoglobin distorts the shape of red blood cells -the majority of mutations are not harmful however, due to the nature of the genetic code, and the presence of non-coding introns -as introns do not code for proteins so if a mutation occurs here, no polypeptide will be affected
31
Types of mutations:
-substitution: this is where one base is substituted for another, in some cases the mutation may not change the amino acid coded for, since the degenerate nature of the genetic code means multiple codons code for the same amino acid, but sometimes it does result in a different amino acid -insertion: this is where an extra base (or bases) is inserted into the DNA sequence, this mutation often results in a non-functional protein as all of the codons after the insertion are affected as the code is over-lapping which is known as frame shift -deletion: this is where a base (or bases) is removed from the sequence, this again results in frame shift and a likely non-functional protein as all codons after the deletion are changed
32
What is a gene?
A sequence of bases on a DNA molecule that codes for a sequence of amino acids in a polypeptide chain
33
What is an allele?
A form of a gene, for example one form of a gene for eye color may code for blue eyes, another may code for brown eyes
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What is a genotype?
The genetic constitution of an organism, the alleles they have
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What is a phenotype?
The physical characteristics expressed by an organism due to its genotype
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What is recessive?
The allele that must be present twice in the genotype to be expressed in the phenotype
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What is dominant?
The allele that only needs to be present once in the genotype to be expressed in the phenotype
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What is codominance?
Alleles in the genotype that both contribute to the phenotype, for example the genotype AB for blood group results in the phenotype AB
39
What is homozygote?
When an organisms has 2 of the same alleles for a characteristic
40
What is heterozygote?
When an organism has 2 different alleles for a characteristic
41
Inheritance of genetic disorders:
-monohybrid inheritance is when we consider the inheritance of 1 gene at a time when 2 parents have offspring -there are multiple combinations possible, since during meiosis only 1 chromosome from each homologous pair goes into the gamete cell
42
Inheritance of genetic disorders: Example 1
Key: B -> dominant allele for brown eyes b -> recessive allele for blue eyes Cross 1: -homozygous dominant parent x homozygous recessive parent -parent genotypes: BB, bb -possible gametes: B,B and b,b -phenotypes: brown eyes -phenotype ratio: 100%
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Inheritance of genetic disorders: Example 2
Cross 2: -heterozygous parent x heterozygous parent -parent genotypes: Bb, Bb -possible gametes: B,b and B,b -phenotypes: brown eyes, blue eyes -phenotype ratio: 3:1
44
Inheritance of genetic disorders: Example 3
Cross 3: -heterozygous parent x homozygous recessive parent -parent genotypes: Bb, bb -possible gametes B,b and b,b -phenotypes: brown eyes, blue eyes -phenotype ratio: 1:1
45
Genetic pedigree diagrams:
-these diagrams are essentially family trees that look at the ocurrence of a genetic disorder -they can be used to work out an individual's genotype and a couple's chance of passing on the disorder to offspring -for instance, if 2 parents both exhibiting a dominant characteristic had a child expressing the recessive characteristic, the parents must both be heterozygous for the trait and the child is homozygous recessive for the treait
46
Sex-linked characteristics:
-the 23rd pair of chromosomes in a human can be XX, coding for a female, or XY, coding for a male -the Y chromosome is much smaller than the X chromosome and is described to be almost 'genetically empty' as it contains much fewer genes than the X chromosome -this means in males some genes are only present once, meaning recessive disorders more common in males, as they only need one copy of the recessive gene, whereas females would need 2 copies on both X chromosomes, which is less likely -these disorders are known as 'sex-linked disorders' as they are caused by genes present on the sex chromosomes -a common example of one such disorder is red-green colour blindness, which is much more common in men and affects the sufferer's ability to distinguish red and green colours -although their ability to distinguish other colours such as blue and yellow is, for most people, unaffected -on average 8% of men suffer with it, and only 0.5% of women; providing evidence that the disorder is sex-linked
47
genotypes in male and female chromosomes:
in females: X ^A X ^A = unaffected X ^ A X ^ a = carrier X ^ a X^ a = affected in males: X ^ A Y = unaffected X ^ a Y = affected
48
Autosomes vs sex chromosomes:
-sex is determined by the sex-chromosomes -the rest of the chromosomes or an organism are called autosomes -different organisms have different ways to determines sex: in mammals, it’s the XY chromosomes -XX: female, XY: male -all gametes in a female have an X chromosome: they’re homogametic -gametes in a male may have X or Y chrosomes: they’re heterogametic
49
XY chromosomes:
-X = 150 million base pairs, between 800 to 1200 genes, includes genes such as blood clotting factors and ability to distinguish some colours -Y = 23 million base pairs, 78 protein-coding genes, includes the SRY gene (sex-determining region Y), which starts the formation of the testes
50
Eye colour in Drosophila:
-sex-linked trait -dominant: red; recessive: white Phenotypes: -females: X^R X^R -> red eyes, X^R X^r -> red eyes, X^r X^r -> white eyes -males: X^RY -> red eyes, X^rY -> white eyes
51
Humans:
-not many characteristics are monogenic in humans -even with monogenic characteristics, genetics are affected by: -transcription factors: molecules that modify the expression of a gene or group of genes -epigenetics: the reversible modification of the genes due to the impact of the environment
52
Humans- sex-linkage:
-some diseases are sex-linked -examples: hemophilia, red-green colour blindness -more common in males as they only have one allele: the presence of one recessive allele gives the recessive phenotype -females can have them, but they need the two recessive alleles in the two X chrosomomes -therefore, females can be carriers and not suffer the disease
53
Red-green colourblindness:
-many genes involved in colour vision are found in the X chromosome -they take part in the development of sensitive cells in the retina -red-green colour blindness: patients are unable to distinguish these two colours -no health impact -it’s a recessive sex-linked gene
54
Hemophilia:
-a more serious disease, where patients are not able to form blood clots -a factor in the blood clotting process is affected -most known is hemophilia A or factor VIII deficiency: the factor VIII of blood coagulation is missing -treated with recombinant factor VIII (bacteria-produced)