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What is DNA?
DNA (deoxyribonucleic acid) is a molecule that contains genetic information in the form of genes.
What is a chromosome?
Chromosomes are are thread-like structures of DNA, carrying genetic information in the form of genes.
Where are chromosomes located in a cell?
Chromosomes are located in the nucleus of cells.
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What is DNA?
DNA (deoxyribonucleic acid) is a molecule that contains genetic information in the form of genes.
What is a chromosome?
Chromosomes are are thread-like structures of DNA, carrying genetic information in the form of genes.
Where are chromosomes located in a cell?
Chromosomes are located in the nucleus of cells.
Define the term gene.
A gene is a short length of DNA found on a chromosome that codes for a particular sequence of amino acids, to make a specific protein.
What do genes code for?
Genes code for different types of proteins.
What is an allele?
An allele is an alternative form of a gene.
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.
What are the sex chromosomes in biological males?
In biological males the sex chromosomes are XY.
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.
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 %.
What are the two stages of protein synthesis? (Extended Tier Only)
The two stages of protein synthesis are:
the DNA sequence is copied into mRNA (transcription)
the mRNA works with a ribosome to assemble amino acids into a protein (translation)
What does the sequence of bases in the DNA determine? (Extended Tier Only)
The sequence of bases in a gene determines the sequence of amino acids used to make a specific protein.
Why is the sequence of amino acids in a protein important? (Extended Tier Only)
The sequence of amino acids determine how the protein folds into its specific 3D shape. This is important for the functioning of the protein.
Define the term protein synthesis. (Extended Tier Only)
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 at a ribsome
What events of protein synthesis take place within the nucleus? (Extended Tier Only)
The events of protein synthesis that take place within the nucleus are that mRNA copies a gene's DNA sequence.
True or False?
The DNA travels to the ribosome for translation. (Extended Tier Only)
False.
The DNA stays in the nucleus and the mRNA travels to the ribosome for translation.
What is mRNA? (Extended Tier Only)
mRNA (messenger RNA) is a copy of a gene.
It is a single-stranded RNA molecule that carries genetic information from DNA to ribosomes for protein synthesis.
Describe the events of protein synthesis that occur within the cytoplasm. (Extended Tier Only)
The events of protein synthesis that occur within the cytoplasm (translation) are:
the mRNA passes through ribosomes
the ribosome assembles amino acids into protein molecules
the specific sequence of amino acids is determined by the sequence of bases in the mRNA
Where in a cell does translation occur? (Extended Tier Only)
Translation occurs in the cytoplasm of the cell, specifically at ribosomes.
True or False?
The whole length of DNA is copied during protein synthesis. (Extended Tier Only)
False.
DNA is transcribed and translated one gene at a time. Each gene will produce a different protein.
True or False?
All genes in a cell are expressed at all times. (Extended Tier Only)
False.
Most genes in a cell are not expressed ("switched off") to conserve energy and resources.
How does DNA control cell function? (Extended Tier Only)
DNA controls cell function by controlling the production of proteins through gene expression.
What are three examples of proteins that can be produced through gene expression? (Extended Tier Only)
Three types of proteins that can be produced through gene expression are enzymes, membrane carriers, and receptors for neurotransmitters.
What is a diploid nucleus? (Extended Tier Only)
A diploid nucleus contains two sets of chromosomes, totalling 46 chromosomes in humans.
What is a haploid nucleus? (Extended Tier Only)
A haploid nucleus contains one set of unpaired chromosomes, totalling 23 chromosomes in human gametes.
How many different chromosomes do humans have? (Extended Tier Only)
Humans have 23 different chromosomes in each cell. In a diploid cell each chromosome comes in a pair.
True or False?
All the cells in humans are diploid. (Extended Tier Only)
False.
Most body cells are diploid, but gametes (sex cells) are haploid.
What is the total number of chromosomes in a human diploid cell? (Extended Tier Only)
A human diploid cell has a total of 46 chromosomes (23 pairs).
Define the term mitosis. (Extended Tier Only)
Mitosis is nuclear division that results in the production of genetically identical cells. It is used for growth, repair, and asexual reproduction.
True or False?
Mitosis results in genetically diverse cells. (Extended Tier Only)
False.
Mitosis results in genetically identical cells.
What happens to chromosomes before mitosis? (Extended Tier Only)
Before mitosis each chromosome replicates, producing two identical copies of each chromosome; one for each of the two daughter cells.
Why is mitosis important in the body? (Extended Tier Only)
Mitosis is important in the body to produce new cells for growth, repair of damaged tissues, replacement of cells and asexual reproduction.
What is the outcome of a mitotic division? (Extended Tier Only)
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? (Extended Tier Only)
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? (Extended Tier Only)
Human cells produced by mitosis contain 23 pairs of, or 46, chromosomes.
What are stem cells? (Extended Tier Only)
Stem cells are unspecialised cells that divide by mitosis to produce daughter cells that can become specialised for specific functions.
Define the term meiosis. (Extended Tier Only)
Meiosis is a reduction division in which the chromosome number is halved from diploid to haploid resulting in genetically different cells. The cells produced by meiosis are gametes (sex cells).
What is the purpose of meiosis? (Extended Tier Only)
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. (Extended Tier Only)
False.
Meiosis results in genetically different cells.
What happens to the chromosome number during meiosis? (Extended Tier Only)
During meiosis the chromosome number is halved from diploid (46) to haploid (23). For this reason meiosis is known as reduction division.
Why is meiosis crucial for sexual reproduction? (Extended Tier Only)
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.
Define the terms homozygous and heterozygous.
Homozygous: two identical alleles of a particular gene
Heterozygous: two different alleles of a particular gene
Define the term genotype.
The genotype is the genetic make-up of an organism, including the types of alleles present.
Define the term phenotype.
The phenotype is the observable characteristics of an organism. This can be visibly observed (e.g. eye colour) or tested for (e.g. blood type).
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.
True or False?
Only one recessive allele is needed in the genotype in order for it to be expressed in the phenotype.
False.
Two recessive alleles are needed in the genotype in order for it to be expressed in the phenotype.
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.
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).
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.
When two parents that are both heterozygous for a trait have offspring, what is the predicted ratio of offspring expressing the dominant trait vs the recessive trait?
The predicted ratio of offspring characteristics from two heterozygous parents is 3:1 dominant vs recessive characteristic.
What is a pedigree diagram?
Family tree diagrams are usually used to trace the pattern of inheritance of a specific characteristic (usually a disease) through generations of a family.
Define the term codominance. (Extended Tier Only)
Codominance occurs when both alleles of a genotype in heterozygous organisms are expressed in the phenotype of an individual.
True or False?
Codominance results in the expression of one allele over the other. (Extended Tier Only)
False.
Codominance results in both alleles being expressed equally in the phenotype.
What are the alleles for blood group? (Extended Tier Only)
The alleles for blood group are IA, IB and Io.
What is the relationship between IA, IB, and IO alleles? (Extended Tier Only)
The alleles for blood group show the following relationship:
IA and IB are codominant
IA and IB are dominant to IO
True or False?
A person with blood type AB has the genotype IAIB. (Extended Tier Only)
True.
A person with blood type AB has the genotype IAIB.
What is a sex-linked characteristic? (Extended Tier Only)
A sex-linked characteristic is one where the alleles controlling the trait are found on the sex chromosomes, typically the X chromosome.
Sex linkage makes the characteristic more common in one sex than in the other.
Why are males more likely to show sex-linked recessive conditions? (Extended Tier Only)
Males are more likely to show sex-linked recessive conditions because they only have one X chromosome, so a recessive allele on that chromosome will always be expressed.
Define the term carrier in the context of sex-linked traits. (Extended Tier Only)
A carrier is a female with one recessive allele for a sex-linked trait that is masked by a dominant allele. She doesn't have the condition but can pass it on to offspring.
What is the probability that a son born to a carrier female will have colour blindness? (Extended Tier Only)
The probability that a son born to a carrier female will have colour blindness is 50 %:
XB | Y | |
XB | XBXB | XBY |
Xb | XBXb | XbY |
For any son born from the parents shown, the probability that he will have colour blindness is 50 %.
Note that the vision of the father is irrelevant here, as any son will only inherit the Y chromosome from his father.
True or False?
The Y chromosome typically carries as many genes as the X chromosome. (Extended Tier Only)
False.
The Y chromosome is much smaller and carries fewer genes than the X chromosome.
In a cross between a male with colour vision and a female carrying the allele for colour blindness, what is the probability of producing a child who is a carrier? (Extended Tier Only)
In a cross between a male with colour vision and a female carrying the allele for colour blindness, there is a 25 % chance of producing a child who is a carrier.