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Where in the cell is DNA located?
DNA is located in the nucleus of a cell.
Define the term genome.
The genome is the entire set of genetic material of an organism. This includes all the alleles of all the genes in their DNA.
True or False?
A gene provides the instructions for the specific carbohydrates that are made by a cell.
False.
A gene provides the instructions that code for the amino acid sequence required to build a protein.
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Where in the cell is DNA located?
DNA is located in the nucleus of a cell.
Define the term genome.
The genome is the entire set of genetic material of an organism. This includes all the alleles of all the genes in their DNA.
True or False?
A gene provides the instructions for the specific carbohydrates that are made by a cell.
False.
A gene provides the instructions that code for the amino acid sequence required to build a protein.
True or False?
Each body cell nucleus holds a copy of the entire genome of an organism.
True.
The nuclei of body cells contain a copy of the entire human genome, even though they don't use all of the information.
What is a gene?
A gene is a section of DNA which codes for a specific protein.
Define the term chromosome.
Chromosomes are structures formed by the coiling of DNA double helices in the nucleus of a cell, visible during cell division, and containing genetic information in the form of genes.
True or False?
Each chromosome holds genetic information coding for multiple different proteins.
True.
Each chromosome carries many genes which code for many different types of protein.
How many chromosomes do human body cells contain?
Human body cells contain 23 pairs of chromosomes, totalling 46 chromosomes in diploid cells (often represented as 2n).
What are homologous chromosome pairs?
Homologous chromosome pairs are two chromosomes (one from each parent) that are similar in size, shape, and gene content.
They carry corresponding genes, although they may have different alleles for each gene.
What type of cell contains a haploid number of chromosomes?
Gametes (sperm and egg cells) contain the haploid number of chromosomes (n), which is half the diploid number found in body cells.
True or False?
Chromosome numbers are consistent across all organisms.
False.
The number of chromosomes differs between species.
True or False?
Chromosomes are only visible during cell division.
True.
Chromosomes condense and become visible during cell division (like mitosis or meiosis) when the DNA coils tightly to form distinct structures.
Name the four nucleotide bases found in DNA.
The four nucleotide bases in DNA are:
Thymine
Adenine
Guanine
Cytosine
Define the term complementary base pairing.
Complementary base pairing refers to the specific pairings of nucleotide bases in DNA.
Adenine pairs with thymine
Guanine pairs with cytosine
True or False?
Adenine pairs with guanine in DNA.
False.
Adenine pairs with thymine.
What is the significance of nucleotide base pairing in cell division?
Complementary base pairing allows for the DNA template to be copied and a new strand to be synthesised. This ensures accurate DNA replication during cell division.
Describe the structure of DNA.
DNA is a polymer made up of two strands coiled around each other to form a double helix. The strands consist of a sugar-phosphate backbone with nitrogenous bases (adenine, thymine, guanine, cytosine) attached to the backbone via complementary base pairing.
What components of a nucleotide base join together to form the backbone of DNA?
The backbone of a DNA strand is formed from the deoxyribose sugar of one nucleotide base and the phosphate molecule of the adjacent nucleotide base.
Define the term polymer.
A polymer is a large molecule made up of many repeating subunits.
Name the nucleotide bases found in RNA.
The nucleotide bases found in RNA are adenine, guanine, cytosine and uracil.
Define polynucleotide.
A polynucleotide is a polymer, or large molecule, made up of many nucleotide monomers linked together in a chain.
What are two key differences between RNA and DNA?
Differences between DNA and RNA include:
RNA is single-stranded and DNA is double-stranded
RNA contains the base uracil instead of thymine (as in DNA)
RNA contains ribose sugar and DNA contains deoxyribose sugar
True or False?
DNA and RNA are both nucleic acids.
True.
DNA stands for deoxyribonucleic acid and RNA stands for ribonucleic acid.
Which process uses RNA to copy sections of the DNA code to make molecules in the cytoplasm of the cell?
Protein synthesis is the process which uses mRNA as a messenger to carry the code from the DNA to the ribosome in order to make proteins.
What is tRNA?
tRNA is a molecule in the cytoplasm of cells. It plays a key role in the process of protein synthesis. tRNA binds to the mRNA using complementary base pairing and delivers the specific amino acid coded for by the mRNA.
True or False?
Only DNA uses complementary base pairing.
False.
RNA relies on complementary base pairing during the formation of mRNA in transcription and pairing with tRNA for polypeptide synthesis in translation.
Name the base in RNA which is not present in DNA.
Uracil is present in RNA but not in DNA.
What type of sugar is found in RNA molecules?
RNA contains ribose sugar in its backbone, which differs from the deoxyribose sugar found in the backbone of DNA molecules.
What are the two main types of RNA involved in protein synthesis?
The main types of RNA involved in protein synthesis are messenger RNA (mRNA), transfer RNA (tRNA).
Define the term protein synthesis.
Protein synthesis is the process by which proteins are made in a cell. It is split into two parts:
Transcription which copies the DNA code into mRNA
Translation which uses the mRNA to produce a protein
Where does transcription occur in a cell?
Transcription occurs in the nucleus of the cell.
What takes place during transcription?
Transcription is the process of producing an mRNA copy of a gene's DNA sequence; it occurs in the nucleus of a cell.
What is mRNA?
mRNA is messenger RNA. It is a single-stranded RNA molecule that carries genetic information from DNA to ribosomes for protein synthesis.
Describe translation.
Translation is the process during which mRNA is decoded to produce a specific sequence of amino acids; this produces a protein. Translation occurs on ribosomes.
What is the role of tRNA in translation?
tRNA is transfer RNA. It has a region called an anticodon and carries specific amino acids to the ribosome. Here the anticodon pairs with an mRNA codon during translation.
What is an anticodon?
An anticodon is a triplet of unpaired bases on tRNA that is complementary to a specific mRNA codon during translation.
Where in a cell does translation occur?
Translation occurs in the cytoplasm of the cell, specifically at ribosomes.
True or False?
DNA is transcribed and translated in sections.
True.
DNA is transcribed and translated one gene at a time. Each gene will produce a different protein.
Define the term allele.
An allele is a version of a gene. For example the gene for eye colour has different alleles that give rise to different eye colours.
How many alleles does an individual have for each gene?
Individuals have two alleles of each gene; one on each chromosome of a homologous pair. One allele is inherited from the mother and one from the father.
True or False.
Phenotype depends on genotype because different alleles code for different proteins in a cell.
True.
The genetic code of each allele will determine the protein made during protein synthesis. The proteins determine the phenotype of the individual.
Why do offspring tend to show similar characteristics to their parents?
Offspring tend to show similar characteristics to their parents because they inherit half their alleles from each parent.
Define the term gamete.
A gamete is a sex cell, e.g. a sperm cell or an egg cell. Gametes are haploid cells.
Define the term chromosome.
A chromosome is a thread-like molecule of DNA present in the nucleus of a cell.
True or False?
Dominant alleles are always expressed in the phenotype.
True.
Dominant alleles are always expressed in an organism's phenotype when present.
True or False?
Recessive alleles require inheritance from both parents to be expressed.
True.
Recessive alleles need to be inherited from both parents for their associated characteristic to be expressed in the phenotype. If either of the alleles inherited is dominant then it will mask the recessive form.
Define the term homozygous.
A homozygous individual has two identical alleles of a specific gene, e.g. DD or dd.
Define the term heterozygous.
A heterozygous individual has two different alleles of a specific gene, e.g. Dd
Define the term genotype.
Genotype refers to the combination of alleles present in an organism. A genotype can be represented by letters, e.g. EE, Ee or ee
Define the term phenotype.
Phenotype refers to the observable physical characteristics of an organism. Phenotype is influenced by genotype and the environment.
A gene is represented by the letter G/g. What is the genotype of a homozygous dominant individual?
The genotype of a homozygous dominant individual in this example would be GG.
In a species of mammal black fur is coded for by the allele B and brown fur by the allele b, what is the phenotype of an individual with the genotype Bb?
In a species of mammal where allele B = black fur and allele b = brown fur, the phenotype of an individual with the genotype Bb is black fur. This is because the dominant allele B masks expression of the recessive allele b.
Define the term codominance.
Codominance occurs when both alleles of a genotype are expressed in the phenotype of an individual.
True or False?
Codominance results in the expression of one allele over the other.
False.
Codominance results in both alleles being expressed equally in the phenotype.
Blood type is an example of codominance. An individual has blood type AB; what does this indicate about their genotype?
The individual has a heterozygous genotype with one allele for blood type and A and one allele for blood type B. Both alleles are expressed in the phenotype.
Define the term polygenic inheritance.
Polygenic inheritance refers to characteristics which are determined by multiple genes.
True or False?
The majority of characteristics are controlled by one gene.
False.
The majority of characteristics are polygenic and are therefore determined by multiple genes.
Why do many characteristics show a wide range of observable phenotypes?
Many characteristics have a wide range of phenotypes because they are polygenic and are therefore controlled by many different genes, all of which contribute to the range of possible phenotypes.
What is a Punnett square used for?
A Punnett square is a diagram which shows the potential allele combinations that can result from a genetic cross between two individuals.
How are dominant and recessive alleles usually represented in a Punnett square?
Dominant alleles are usually represented by a capital letter whereas recessive alleles are represented by a lower case letter.
What is monohybrid inheritance?
Monohybrid inheritance refers to the inheritance of a trait that is determined by a single gene.
If a tall pea plant with genotype TT is crossed with a short pea plant with genotype tt, what would be the possible genotypes of the offspring?
If a tall pea plant with genotype TT is crossed with a short pea plant with genotype tt, all offspring would be heterozygous with the genotype Tt. This is because a T allele is inherited from the tall parent and a t allele is inherited from the short parent.
If a tall pea plant with genotype Tt is crossed with another tall pea plant with genotype Tt, what would be the phenotype ratio of the offspring?
If a tall pea plant with genotype Tt is crossed with another tall pea plant with genotype Tt, the phenotype ratio of the offspring would be 3: 1 (3 tall and 1 short). This is because the cross would result in 1 x TT (tall), 2 x Tt (tall) and 1 x tt (short).
True or False?
Punnett squares can only predict the probability of different outcomes from monohybrid crosses.
False.
Punnet squares can be used to predict other types of cross, e.g. dihybrid crosses. In this case the diagram may become more complicated and will require more squares.
True or False?
Monohybrid inheritance involves characteristics controlled by multiple genes.
False.
Monohybrid inheritance involves characteristics controlled by a single gene.
In a cross between a homozygous dominant individual and a homozygous recessive individual, what is the probability of the offspring displaying a dominant phenotype?
When a homozygous dominant individual is crossed with a homozygous recessive individual there is 100 % probability that the offspring will display the dominant phenotype. This is because all offspring will be heterozygous.
In a cross between two heterozygous parents what is the probability of offspring having a homozygous recessive genotype?
If two heterozygous individuals are crossed there is a 1/4, 0.25 or 25 % probability of offspring having a homozygous recessive genotype.
A cross between two individuals results in offspring with the genotypes DD, DD, Dd and Dd. What are the parent genotypes in this cross?
The parent genotypes that produce the offspring genotypes DD, DD, Dd and DD are DD and Dd.
What is a family pedigree diagram?
A family pedigree is a genetic diagram used to trace the inheritance of a characteristic through generations of families.
What features of an individual can be shown on a family pedigree diagram?
Features of an individual that can be shown on a family pedigree diagram include:
Whether an individual is a biological male or female
Whether an individual is affected by a genetic trait or not
Vertical lines are used to represent parentage
Horizontal lines are used to represent couples that have produced children
Whether an individual is a carrier of a genetic trait (in some diagrams)
Sometimes a pedigree diagram will indicate that certain individuals are carriers. What is meant by the term carrier in this context?
A carrier is a heterozygous individual who carries a single recessive allele that codes for a genetic condition. They do not have the condition because the recessive allele is masked by the healthy dominant allele, but they can pass the condition on to their offspring. Family pedigree diagrams do not always label carriers.
What are the sex chromosomes?
Sex chromosomes are the chromosomes that determine the biological sex of an individual; in humans they are the X and Y chromosomes.
What are the sex chromosomes in biological females?
In biological females the sex chromosomes are XX.
True or False?
Biological sex is determined by a single gene.
False.
Biological sex is determined by an entire chromosome pair (XX for females, XY for males), not by a single gene.
What are the sex chromosomes in biological males?
In biological males the sex chromosomes are XY.
True or False?
The biological sex of a child is determined by the father.
True.
The father determines the biological sex of the child because he can pass on either an X or a Y chromosome.
What is the probability of a child inheriting two X chromosomes?
The probability of a child inheriting two X chromosomes is 1/2 or 50 %.
Define the term mitosis.
Mitosis is nuclear division that results in the production of genetically identical cells. It is used for growth, repair, and asexual reproduction.
Define the term diploid.
Diploid cells have two sets of chromosomes; one set comes from each parent. In humans the diploid number of chromosomes is 46 (23 pairs).
True or False?
Mitosis results in genetically diverse cells.
False.
Mitosis results in genetically identical cells.
What happens to chromosomes before mitosis?
Before mitosis each chromosome replicates, producing two identical copies of each chromosome; one for each of the two daughter cells.
What is the outcome of a mitotic division?
A mitotic division produces two genetically identical daughter cells. The daughter cells are genetically identical to each other and to the parent cell.
What cells are not produced by mitosis in animals and plants?
The gametes (i.e. sperm, egg cells, pollen and ovules) are not produced by mitosis, instead they are produced by meiosis.
How many chromosomes are present in a human cell produced by mitosis?
Human cells produced by mitosis contain 23 pairs of, or 46, chromosomes.
Why is mitosis important in the body?
Mitosis is important in the body to produce new cells for growth, repair of damaged tissues, and the replacement of cells.
Define the term meiosis.
Meiosis is a type of nuclear division that produces genetically different cells. The cells produced by meiosis are gametes (sex cells).
What is the purpose of meiosis?
Meiosis is essential for sexual reproduction as it produces gametes (sperm cells and egg cells) with half the normal chromosome number.
True or False?
Meiosis results in genetically identical cells.
False.
Meiosis results in genetically different cells.
What happens to the chromosome number during meiosis?
During meiosis the chromosome number is halved from diploid (46) to haploid (23). For this reason meiosis is known as reduction division.
Describe the process of meiosis.
The process of meiosis involves the following events:
During the first division homologous chromosomes pair up and recombine, resulting in genetic variation
The second division separates sister chromatids
What is the importance of meiosis for generating genetic variation?
Meiosis increases genetic variation by creating new combinations of maternal and paternal chromosomes in each gamete, leading to unique offspring.
Describe the daughter cells produced by meiosis.
The daughter cells produced by meiosis can be described as follows:
Four daughter cells
Cells are genetically different
Cells are haploid
The cells produced are gametes
Why is meiosis crucial for sexual reproduction?
Meiosis is crucial because it ensures that gametes (sperm and egg cells) have half the chromosome number, allowing for the correct chromosome number after fertilisation.
How many daughter cells are produced during the process of meiosis?
Meiosis produces four daughter cells.
Give three differences between meiosis and mitosis.
Some key differences between meiosis and mitosis might include:
Mitosis involves one division WHILE meiosis involves two
Mitosis produces diploid daughter cells WHILE meiosis produces haploid daughter cells
Mitosis produces two daughter cells WHILE meiosis produces four
Daughter cells in mitosis are genetically identical to each other and the parent cell WHILE in meiosis they are genetically different
Mitosis is used for growth and repair WHILE meiosis produces sex cells for sexual reproduction
Define the term genetic variation.
Genetic variation is the differences between the genetic information of different organisms.
Define the term random fertilisation.
Random fertilisation describes the nature of the fertilisation process; any one of millions of sperm cells may fertilise whichever egg cell happens to have been released during ovulation.
How does random fertilisation contribute to genetic variation?
Random fertilisation contributes to genetic variation because there are trillions of different possible combinations of sperm cell and egg cell that can fuse at fertilisation; this means that the new embryo will be genetically unique.
Define the term variation.
Variation refers to the differences between individuals.
What are the two main causes of variation?
Variation can be caused by genetic factors and/or environmental factors.
True or False?
Meiosis contributes to genetic variation.
True.
Meiosis increases genetic variation by creating gametes with unique combinations of alleles.
Give an example of variation in humans that results from genetic factors alone.
Examples of variation in humans that is caused by genetic factors alone include:
Blood group
Eye colour
Biological sex
Ability to roll the tongue
What is meant by environmental variation?
Environmental variation refers to differences in traits caused by factors in the environment, e.g.
Events that cause physical trauma
Stress
Culture
Lifestyle
Give an example of variation in humans that results from environmental factors alone.
Examples of variation in humans that is caused by environmental factors alone include:
Body scarring
Spoken language
Regional accent
Tattoos
Note that there are likely to be very few factors that are caused by environmental factors alone; most traits have a genetic element even if they seem to be environmental, e.g. body mass or sporting ability
True or False?
Many characteristics are caused by a combination of genetic and environmental factors.
True.
Genetic and environmental factors interact with each other to produce observable traits in individuals, e.g. body mass is affected by diet and lifestyle, but there is also a large genetic component that affects the brain and metabolism.
Define the term mutation.
Mutations are rare and random change to the genetic material that can be inherited.
True or False?
Cells that contain mutations in their genetic material arise frequently.
False.
It is rare for cells to contain mutations in their genetic material.
True or False?
Mutations can introduce genetic variation.
True.
Mutations are changes in the genetic material, so contribute to genetic variation between individuals.
What does it mean when we say that mutations can be inherited?
Inherited traits are those that can be passed on to the next generation. DNA containing mutations can be passed on to offspring, so mutations can be inherited.
How can mutations affect the amino acid sequence of proteins?
Mutations can affect amino acid sequence as follows:
Mutations result in changes to the DNA base sequence
The changed base sequence results in a different amino acid sequence
Mutations can change the amino acid sequence of proteins. How might this affect the phenotype of an organism?
An altered amino acid sequence can affect the phenotype of an organism because the changed amino acid sequence might result in the formation of altered proteins.
True or False?
Most mutations have a harmful effect on the phenotype.
False.
Most mutations have no effect, or just a small effect, on the phenotype. This may be the result of an unaltered proteins structure, or a minor change to protein structure that does not affect protein function.
True or False?
On rare occasions a mutation may have a significant effect on phenotype.
True.
It is rare for mutations to have a significant effect on phenotype. When this occurs it can lead to harmful effects, e.g. genetic diseases.
True or False?
Mutation rate can be influenced by external factors such as radiation and chemical exposure.
True.
The incidence of mutations can be increased by exposure to ionising radiation (gamma rays, x-rays, ultraviolet rays) and certain chemicals, e.g. tar in tobacco.
Define the term mutagen.
A mutagen is an agent, such as radiation or a chemical, that can increase the frequency of mutations.
What types of radiation can increase mutation rates?
Gamma rays, x-rays, and ultraviolet rays are types of ionising radiation that can damage DNA and cause changes in DNA base sequences, leading to mutations.
Give an example of a source of chemicals that can increase mutation rates.
The chemicals found in tobacco tar can increase mutation rates.
Describe the process of natural selection.
Darwin's theory of natural selection states that:
Individuals within a species exhibit variation due to genetic differences
Those with advantageous traits are more likely to survive and reproduce
The alleles that code for advantageous traits are passed on to offspring
Over time the advantageous alleles become more common in the population
Define the term evolution.
Evolution is the change that occurs in populations over many generations. Natural selection in the mechanism by which this change occurs.
What is meant by survival of the fittest in the context of natural selection?
"Survival of the fittest" refers to the idea that individuals with traits better suited to their environment are more likely to survive. These individuals will reproduce and pass on their traits.
True or False?
Natural selection can occur in a population of genetically identical individuals.
False.
Natural selection can only occur when variation is present. This is why populations with no, or limited, genetic variation are unable to adapt to changes in their environment.
True or False?
Alleles that code for advantageous characteristics are more likely to be passed from one generation to the next.
True.
Advantageous characteristics promote survival in organisms. These organisms can then reproduce and pass on their alleles to the next generation.
What is antibiotic resistance?
Antibiotic resistance is the ability of bacteria to withstand the effects of an antibiotic; bacteria with resistance to a particular antibiotic are more likely to survive when they are exposed to the drug.
True or False?
Mutation can result in antibiotic resistance in bacteria.
True.
Random mutations in bacterial DNA can lead to antibiotic resistance, enabling some bacteria to survive antibiotic treatment.
How can an antibiotic resistant population of bacteria arise?
Antibiotic resistant strains of bacteria can arise by the following process:
Mutation gives rise to an allele that codes for antibiotic resistance in one individual
The resistant individual survives when treated with the antibiotic
The individual reproduces and passes on the resistance allele
This occurs over many generations until only resistant individuals remain
How does antibiotic use increase the probability that a resistant population of bacteria will arise?
Antibiotic use can increase the probability that a resistant population of bacteria will arise because the antibiotics kill any non-resistant individuals, meaning that any randomly occurring alleles for resistance become highly advantageous. The resistance alleles are therefore more likely to be passed on.
True or False?
Antibiotic resistance can make bacterial infections more difficult to control.
True.
Infections caused by antibiotic resistant strains of bacteria can be hard to treat, and several different types of antibiotic may be needed to kill all the bacteria
How can the the problem of antibiotic resistance be prevented?
The development of antibiotic resistance can be prevented by measures such as:
Using antibiotics only when necessary, e.g. not for minor illness or viral infections
Prescribing specific types of antibiotic for specific types of infection
Limiting antibiotic use in agriculture
Improve hygiene measures in hospitals so that resistant strains do not spread