DNA, genes and inheritance
By the end of this chapter you will be able to
- Describe DNA, genes and alleles, and the structure of a chromosome
- Complete a Punnett square and state the genotypes and phenotypes of the offspring
- Calculate the probability of an outcome in a cross, and of a child having a condition
- Read a pedigree diagram and say how a condition is inherited
- [H] Explain meiosis, base pairing and the link between a gene and a protein
You should already know
- Cells, the nucleus and chromosomes (Chapters 2 and 4)
- Mitosis produces identical cells (Chapter 4)
- Fractions and percentages (Chapter 1)
Where this leads
- Variation and natural selection (Chapter 16)
- Mutation and antibiotic resistance (Chapter 14)
- Sex and reproduction in plants (Chapter 8)
GCSE Biology. Content follows the GCSE (9-1) subject content for England (Edexcel and AQA). Content references: Describe the nucleus, chromosomes, DNA, genes and alleles, Describe dominant and recessive alleles, and use Punnett squares for a single gene, Calculate the probability of an inherited characteristic and interpret genetic diagrams, Explain sex determination, cystic fibrosis and polydactyly as examples of inheritance, Describe mutations as changes in DNA, [H] Describe the four bases and base pairing, meiosis and gametes, and protein synthesis (idea).
Exercise P Do you remember?
Method. Recall where the chromosomes are.
- Recall. Chromosomes are found inside the nucleus.inside the nucleus
- Write the answer. nucleus
Check. DNA is found in the chromosomes. ✓
Method. Recall the number.
- Recall. A human body cell has 23 pairs, which is 46 chromosomes.23 pairs
- Write the answer. 46
Check. 23 x 2 = 46. ✓
Method. Write the division as a fraction.
- Write. One half is 1 divided by 2.1 / 2
- Write the answer. 1/2
Check. 1/2 is 50%. ✓
Method. Recall the process.
- Recall. Mitosis makes genetically identical body cells.genetically identical
- Write the answer. mitosis
Check. Meiosis makes gametes. ✓
Method. Work from left to right.
- Multiply. 3 x 4 = 12.12
- Divide. 12 / 2 = 6.12 / 2 = 6
- Write the answer. 6
Check. 6 x 2 = 12. ✓
DNA, genes and alleles
DNA is a long molecule that carries the genetic information of an organism. It is found in the nucleus, where it is packed into chromosomes. A gene is a section of DNA that codes for a characteristic, such as eye colour. Different versions of a gene are called alleles.
DNA is shaped like a double helix: two strands twisted together. Each strand is made of a chain of bases. [H] The four bases are A, T, C and G. A always pairs with T, and C always pairs with G.
Key ideas
- DNA carries the genetic information; it is found in the nucleus, in chromosomes.
- A gene is a section of DNA that codes for a characteristic.
- An allele is one version of a gene.
- [H] The four bases are A, T, C and G; A pairs with T, and C pairs with G.
Method. Recall the molecule.
- Recall. DNA carries the genetic information of an organism.carries the genetic information
- Name it. So the molecule is DNA.DNA
- Write the answer. DNA
Check. DNA is found in the nucleus. ✓
Method. Recall the unit of inheritance.
- Recall. A section of DNA that codes for a characteristic is a gene.codes for a characteristic
- Name it. So the word is gene.gene
- Write the answer. gene
Check. Genes are arranged along chromosomes. ✓
Method. Recall the base pairing rule.
- Recall. A always pairs with T in DNA.A pairs with T
- Name it. So the base that pairs with A is T.T
- Write the answer. T
Check. C always pairs with G. ✓
Watch out
Watch out: a gene is a section of DNA, and an allele is one version of a gene. Do not use the two words as if they mean the same thing.
Exam tip
Exam tip. Name the structure in order: DNA, then chromosome, then gene, then allele.
Try it (with your teacher). With your teacher, look at a labelled diagram of a chromosome. Write the order from the nucleus to the chromosome, to the gene, to the allele.
Exercise 15A DNA, genes and alleles
Method. Recall the molecule.
- Recall. DNA carries the genetic information.carries the genetic information
- Write the answer. DNA
Check. DNA is in the chromosomes. ✓
Method. Recall the location.
- Recall. DNA is found in the nucleus, packed into chromosomes.found in the nucleus
- Write the answer. nucleus
Check. Chromosomes are in the nucleus. ✓
Method. Recall the unit.
- Recall. A gene is a section of DNA that codes for a characteristic.codes for a characteristic
- Write the answer. gene
Check. Genes are on chromosomes. ✓
Method. Recall the definition.
- Recall. An allele is one version of a gene.one version
- Write the answer. a version of a gene
Check. Blue and brown eyes are alleles of an eye colour gene. ✓
Method. Recall the structure.
- Recall. DNA is a double helix, which is two strands twisted together.two strands
- Write the answer. 2
Check. The two strands are held by base pairs. ✓
Method. Recall the shape.
- Recall. DNA is shaped like a double helix, a twisted ladder.twisted ladder
- Write the answer. double helix
Check. The ladder rungs are the base pairs. ✓
Method. Recall the pairs.
- Recall. A human body cell has 23 pairs of chromosomes.23 pairs
- Write the answer. 23
Check. 23 pairs make 46 chromosomes. ✓
Method. Recall the bases.
- Recall. The four bases are A, T, C and G.A, T, C and G
- Write the answer. A, T, C and G
Check. Each base pairs with one partner. ✓
Method. Recall the pairing rule.
- Recall. G always pairs with C.G pairs with C
- Name it. So the base is C.C
- Write the answer. C
Check. A pairs with T. ✓
Method. Think about the length of DNA.
- Think. DNA is a very long molecule with many genes along it.many genes
- Conclude. So a gene is one part of the DNA that codes for a characteristic.one part
- Write the answer. Accept any sentence that says a gene is part of a DNA molecule that carries the code for one characteristic.
Check. A chromosome carries many genes. ✓
Method. Use the idea of alleles.
- Think. Both have the eye colour gene, but the versions differ.the versions differ
- Conclude. So they have different alleles of the same gene.different alleles
- Write the answer. Accept any sentence that says they have different alleles of the eye colour gene.
Check. Different alleles give different features. ✓
Method. Describe how alleles are inherited.
- Parents. Each parent passes on one allele for each gene.one allele
- Child. So the child has a combination of alleles from both parents.combination
- Write the answer. Accept any answer that says each parent passes on one allele for each gene, and the child has a combination from both.
Check. Each gene comes in two copies. ✓
Dominant, recessive and Punnett squares
A dominant allele shows its characteristic whenever it is present. A recessive allele only shows its characteristic when there are no dominant alleles. We write dominant alleles as capital letters, such as A, and recessive alleles as small letters, such as a.
The genotype is the combination of alleles, such as AA, Aa or aa. The phenotype is the characteristic it produces. A genotype with two of the same allele is homozygous; with two different alleles, it is heterozygous.
A Punnett square shows all the possible combinations of alleles from two parents. For a cross between two heterozygous parents (Aa and Aa), the square gives 1 AA : 2 Aa : 1 aa.
| A | a | |
|---|---|---|
| A | AA | Aa |
| a | Aa | aa |
Key ideas
- A dominant allele shows its characteristic if it is present.
- A recessive allele shows only if there is no dominant allele.
- Genotype is the allele combination; phenotype is the characteristic.
- Aa x Aa gives 1 AA : 2 Aa : 1 aa, and 3 dominant : 1 recessive phenotype.
Method. Count the aa squares.
- Look. The four squares are AA, Aa, Aa and aa.AA, Aa, Aa, aa
- Count. One square is aa, so 1 out of 4.1 out of 4
- Write the answer. 1
Check. 1 out of 4 is 25%. ✓
Method. Count the phenotypes in the square.
- Count dominant. Three squares show the dominant phenotype (AA, Aa and Aa).3 dominant
- Count recessive. One square shows the recessive phenotype (aa).1 recessive
- Ratio. The ratio is 3 : 1.3 : 1
- Write the answer. 3 : 1
Check. 3 + 1 = 4 squares. ✓
Method. Recall the terms.
- Recall. A genotype with two different alleles is heterozygous.two different alleles
- Name it. So Aa is heterozygous.heterozygous
- Write the answer. heterozygous
Check. AA and aa are homozygous. ✓
Watch out
Watch out: a recessive allele can be present without showing. A heterozygous plant (Aa) looks like the dominant phenotype.
Exam tip
Exam tip. Write both parents on the top and side of the square, and fill in each square by combining one allele from each parent.
Try it (with your teacher). With your teacher, use two coins to model a monohybrid cross: one coin is one parent’s allele, the other is the other parent’s. Toss both coins 20 times and record the outcomes.
Exercise 15B Dominant, recessive and Punnett squares
Method. Recall the definition.
- Recall. A dominant allele shows its characteristic whenever it is present.whenever it is present
- Write the answer. one that shows its characteristic if present
Check. Dominant alleles are capital letters. ✓
Method. Recall the definition.
- Recall. A recessive allele shows only when no dominant allele is present.no dominant allele
- Write the answer. one that shows only when there is no dominant allele
Check. Recessive alleles are small letters. ✓
Method. Write two capital letters.
- Write. Two dominant alleles are written as two capital letters.two capital letters
- Name it. So the genotype is AA.AA
- Write the answer. AA
Check. AA is homozygous dominant. ✓
Method. Recall the two alleles.
- Recall. Aa has two different alleles.two different
- Name it. So it is heterozygous.heterozygous
- Write the answer. heterozygous
Check. aa is homozygous recessive. ✓
Method. Read the square.
- Read. The square has AA, Aa, Aa and aa.AA, Aa, Aa, aa
- Count. Only one square is aa.1
- Write the answer. 1
Check. 1 of 4 squares. ✓
Method. Read the square.
- Read. Two squares are Aa.Two squares
- Count. So the answer is 2.2
- Write the answer. 2
Check. 1 AA, 2 Aa and 1 aa. ✓
Method. Combine one allele from each parent.
- Combine. Every combination is one A from AA and one a from aa.one A and one a
- Name it. So every offspring is Aa.Aa
- Write the answer. Aa
Check. All offspring are heterozygous. ✓
Method. Count the phenotypes.
- Count. Three of four offspring are dominant, and one is recessive.three dominant
- Ratio. So the ratio is 3 : 1.3 : 1
- Write the answer. 3 : 1
Check. 3 + 1 = 4. ✓
Method. Count each genotype.
- Count. AA appears once, Aa twice, and aa once.once, twice, once
- Ratio. So the genotype ratio is 1 : 2 : 1.1 : 2 : 1
- Write the answer. 1 : 2 : 1
Check. 1 + 2 + 1 = 4. ✓
Method. Fill in the square.
- Fill. The squares are Aa, Aa, aa and aa.Aa, Aa, aa, aa
- Count. Two squares are aa.2
- Write the answer. 2
Check. 2 out of 4 is one half. ✓
Method. Count the phenotypes in the square.
- Count. Two offspring are Aa (dominant) and two are aa (recessive).two and two
- Ratio. So the ratio is 2 : 2, which is 1 : 1.1 : 1
- Write the answer. 1 : 1
Check. 2 : 2 simplifies to 1 : 1. ✓
Method. Link the alleles to the phenotype.
- Recessive. Two recessive alleles give the recessive phenotype, because no dominant allele is present.no dominant allele
- Dominant. A dominant allele masks the recessive one, so the dominant characteristic shows.masks
- Write the answer. Accept any answer that says the recessive allele only shows without a dominant allele, and the dominant allele masks it when present.
Check. Dominance is about which allele shows. ✓
Probability and sex determination
The probability of an outcome is the number of ways it can happen, divided by the total number of outcomes. A probability of 1 in 4 is 25%, or one quarter.
In humans, females have two X chromosomes (XX) and males have an X and a Y (XY). The mother always gives an X, and the father gives either an X or a Y. So each child has a 1 in 2 chance of being a boy or a girl. The father determines the sex of the child.
| Genotype | Phenotype | Notes |
|---|---|---|
| FF | does not have cystic fibrosis | homozygous dominant |
| Ff | does not have cystic fibrosis | heterozygous: a carrier |
| ff | has cystic fibrosis | homozygous recessive |
| father / mother | X | X |
|---|---|---|
| X | XX (female) | XX (female) |
| Y | XY (male) | XY (male) |
Key ideas
- Probability = number of favourable outcomes / total outcomes.
- Females are XX; males are XY.
- The father determines the sex of the child: a 1 in 2 chance of each.
- Two carriers (Aa) have a 1 in 4 chance of a child with the recessive condition.
Method. Use the Punnett square for Aa x Aa.
- Square. One square out of four is aa.aa is 1 of 4
- Probability. So the probability is 1 in 4.1/4
- Write the answer. 1/4
Check. 1/4 is 25%. ✓
Method. Count the Aa squares.
- Count. Two out of four squares are Aa.2 of 4
- Percentage. 2 / 4 = 0.5, which is 50%.50%
- Write the answer. 50%
Check. 50% of 4 is 2. ✓
Method. Recall the male pair.
- Recall. Males have one X and one Y chromosome.one X and one Y
- Name them. So the sex chromosomes are XY.XY
- Write the answer. XY
Check. Females are XX. ✓
Watch out
Watch out: the probability is for each child separately. Having two girls does not change the chance of the next child being a boy: it is still 1 in 2.
Exam tip
Exam tip. Give a probability as a fraction, a decimal or a percentage, as asked. A 1 in 4 chance is 1/4, 0.25 or 25%.
Try it (with your teacher). With your teacher, toss a coin 40 times to model the sex of a child, recording heads for a girl and tails for a boy. Compare your totals with the expected 1 in 2.
Exercise 15C Probability and sex determination
Method. Recall the female pair.
- Recall. Females have two X chromosomes.two X chromosomes
- Name them. So the sex chromosomes are XX.XX
- Write the answer. XX
Check. Males are XY. ✓
Method. Recall which parent decides.
- Recall. The father gives either an X or a Y, which determines the sex.X or a Y
- Name it. So the father determines the sex.father
- Write the answer. father
Check. The mother always gives an X. ✓
Method. Recall the 1 in 2 chance.
- Recall. Each child has a 1 in 2 chance of being a boy.1 in 2
- Write the answer. 1/2
Check. Half the children are boys on average. ✓
Method. Write 1 in 4 as a percentage.
- Divide. 1 / 4 = 0.25.0.25
- Multiply. Multiply by 100 to give 25%.25%
- Write the answer. 25%
Check. 25% of 4 is 1. ✓
Method. Count the aa squares.
- Count. One of the four squares is aa.one of four
- Write the answer. 1
Check. 1 out of 4 squares. ✓
Method. Each child is independent of the others.
- Think. The sex of each child is determined separately, by the father’s sperm.determined separately
- Conclude. So the next child still has a 1 in 2 chance of being a boy.1 in 2
- Write the answer. 1/2
Check. The earlier birth does not change the chance. ✓
Method. Find one quarter of 4.
- Divide. One quarter of 4 children is 4 / 4 = 1.4 / 4 = 1
- Write the answer. 1
Check. 1 in 4 of 4 is 1. ✓
Method. Combine the chromosomes.
- Combine. The mother gives an X, and the father gives a Y.X and Y
- Name. So the child is XY, which is male.XY
- Write the answer. XY
Check. A Y from the father makes a male. ✓
Method. Check whether births are linked.
- Check. Each birth is independent, with a 1 in 2 chance each time.1 in 2 each time
- Conclude. So a girl is not more likely next time, and the answer is no.no
- Write the answer. Accept any answer that says the chance is still 1 in 2 each time, so no.
Check. Previous results do not change the probability. ✓
Method. Count the outcomes from the square.
- Affected. One of the four squares is aa, so 1 in 4 is affected.one of four
- Carrier. Two of the four are Aa, so 2 in 4, which is 1 in 2, are carriers.two of four
- Write the answer. Accept any answer that gives the Punnett square outcomes: one of four is aa, and two of four are Aa.
Check. Count from the square, then give the fraction. ✓
Cystic fibrosis, polydactyly and pedigrees
Cystic fibrosis is caused by a recessive allele. A person with cystic fibrosis has the genotype ff. A carrier (Ff) has the allele but does not have the condition. Polydactyly (extra fingers or toes) is caused by a dominant allele, so a person with one dominant allele has the condition.
A pedigree diagram shows the family of several generations. Squares are males, circles are females, and shaded symbols have the condition. A condition that skips a generation is usually recessive.
Key ideas
- Cystic fibrosis is recessive: the genotype ff has the condition.
- Polydactyly is dominant: one dominant allele is enough.
- Pedigrees: squares are males, circles are females, shaded symbols are affected.
- A recessive condition can appear in children of two unaffected carriers.
Method. Count the shaded symbols.
- Count. Two of the four children have the shaded symbol.two shaded
- Answer. So two children are affected.2
- Write the answer. 2
Check. 2 out of 4 is one half. ✓
Method. Recall the recessive genotype.
- Recall. The recessive condition needs two recessive alleles.two recessive alleles
- Name it. So the genotype is ff.ff
- Write the answer. ff
Check. A carrier is Ff and does not have the condition. ✓
Method. Recall the condition.
- Recall. Extra fingers or toes are caused by a dominant allele.dominant allele
- Name it. The condition is polydactyly.polydactyly
- Write the answer. polydactyly
Check. One dominant allele is enough to show it. ✓
Watch out
Watch out: a carrier of a recessive condition does not have the condition. A pedigree shows only the people with the condition, and carriers can be hidden.
Exam tip
Exam tip. When you read a pedigree, look for the condition skipping a generation, and whether the condition is in every generation.
Try it (with your teacher). With your teacher, draw a simple pedigree for three generations in your own family, using only the features your family wants to share. Do not record any medical information about people who have not agreed.
Exercise 15D Cystic fibrosis, polydactyly and pedigrees
Method. Recall the cause.
- Recall. Cystic fibrosis is caused by a recessive allele.recessive allele
- Write the answer. recessive
Check. Two recessive alleles are needed. ✓
Method. Recall the cause.
- Recall. Polydactyly is caused by a dominant allele.dominant allele
- Write the answer. dominant
Check. One allele is enough. ✓
Method. Recall the genotype.
- Recall. The person needs two recessive alleles.two recessive alleles
- Name it. So the genotype is ff.ff
- Write the answer. ff
Check. Ff is a carrier. ✓
Method. Recall the carrier.
- Recall. A carrier has one dominant and one recessive allele.one dominant and one recessive
- Name it. So the genotype is Ff.Ff
- Write the answer. Ff
Check. A carrier does not have the condition. ✓
Method. Recall the convention.
- Recall. A square is a male in a pedigree diagram.a male
- Write the answer. male
Check. A circle is a female. ✓
Method. Recall the convention.
- Recall. A shaded symbol shows a person who has the condition.has the condition
- Write the answer. the condition
Check. Unshaded symbols do not have it. ✓
Method. Count the unshaded symbols.
- Count. Two of the four children are not shaded.two not shaded
- Write the answer. 2
Check. 2 affected and 2 unaffected. ✓
Method. Count and simplify.
- Count. Two of the four children are affected.2 of 4
- Simplify. 2 / 4 = 1/2.1/2
- Write the answer. 1/2
Check. Half of the children. ✓
Method. Think about the parents.
- Think. Both parents are unaffected, so they must each have one dominant allele.unaffected
- Conclude. The affected child must have two recessive alleles, so the condition is recessive.recessive
- Write the answer. Accept any sentence that says both parents must have been carriers, passing on the recessive allele.
Check. A recessive condition can skip a generation. ✓
Method. Think about which alleles each parent can pass on.
- Parent. A Pp parent passes on either P or p, each with a 1 in 2 chance.P or p
- Partner. The pp partner can only pass on p.only pass on p
- Conclude. So a child gets Pp (polydactyly) or pp (no polydactyly), and both are possible.both are possible
- Write the answer. Accept any sentence that says the parent can pass on either the dominant or the recessive allele, and the partner can only pass on the recessive one.
Check. Punnett square for Pp x pp: half Pp, half pp. ✓
Mutations, meiosis and protein synthesis [H]
A mutation is a random change in the DNA. Most mutations have no effect, but some change the protein a gene codes for, and this can cause disease. Mutations are the source of new alleles.
[H] Meiosis is a type of cell division that makes gametes (sex cells), each with half the number of chromosomes. In humans, a gamete has 23 chromosomes. When the gametes fuse at fertilisation, the full number of 46 is restored.
[H] The genetic code is carried in the DNA. A gene is used to make a protein: the gene is copied into a message, which is used to build the protein from amino acids. A change in the gene can change the protein.
Key ideas
- A mutation is a random change in DNA; it can change a protein.
- [H] Meiosis makes gametes with half the chromosomes (23 in humans).
- [H] Fertilisation restores the full number of 46 chromosomes.
- [H] A gene codes for a protein, which is built from amino acids.
Method. Recall the random change.
- Recall. A random change in DNA is a mutation.random change
- Name it. So the change is a mutation.mutation
- Write the answer. mutation
Check. Most mutations have no effect. ✓
Method. Recall the gamete number.
- Recall. Meiosis halves the number, so a gamete has half of 46.half of 46
- Calculate. 46 / 2 = 23.23
- Write the answer. 23
Check. 23 + 23 = 46 after fertilisation. ✓
Method. Recall the process.
- Recall. Meiosis makes gametes with half the number of chromosomes.half the number
- Name it. So the process is meiosis.meiosis
- Write the answer. meiosis
Check. Mitosis keeps the number the same. ✓
Watch out
Watch out: meiosis makes gametes; mitosis makes body cells. The gametes have half the number of chromosomes, but the body cells keep the full number.
Exam tip
Exam tip. [H] When you describe meiosis, say that it halves the chromosome number, and that fertilisation restores the full number.
Try it (with your teacher). With your teacher, look at a labelled diagram of meiosis. Count the chromosomes at the start, and at the end, and explain why the number changes.
Exercise 15E Mutations, meiosis and protein synthesis [H]
Method. Recall the change.
- Recall. A random change in DNA is a mutation.random change
- Write the answer. mutation
Check. Mutations are the source of new alleles. ✓
Method. Recall the typical effect.
- Recall. Most mutations have no effect on the protein.no effect
- Write the answer. So no.no
- Write the answer. no
Check. Some mutations do change the protein. ✓
Method. Recall the change.
- Recall. A mutation can change the protein a gene codes for.change the protein
- Write the answer. mutation
Check. This is the source of many inherited disorders. ✓
Method. Recall the process.
- Recall. Gametes are made by meiosis.made by meiosis
- Write the answer. meiosis
Check. Mitosis makes body cells. ✓
Method. Recall the sex cells.
- Recall. Gametes are the sex cells with half the number of chromosomes.half the number
- Write the answer. gametes
Check. Gametes fuse at fertilisation. ✓
Method. Recall the number.
- Recall. A human gamete has 23 chromosomes.23
- Write the answer. 23
Check. Half of 46. ✓
Method. Add the two gametes.
- Add. Two gametes of 23 chromosomes make 23 + 23.23 + 23
- Answer. So the full number is 46.46
- Write the answer. 46
Check. 46 is the body cell number. ✓
Method. Recall the building blocks.
- Recall. Proteins are built from chains of amino acids.chains of amino acids
- Write the answer. amino acids
Check. The sequence is set by the gene. ✓
Method. Recall the base pairing rule.
- Recall. T always pairs with A in DNA.T pairs with A
- Name it. So the base is A.A
- Write the answer. A
Check. C pairs with G. ✓
Method. Think about the code.
- Think. The DNA code determines the order of amino acids in a protein.order of amino acids
- Conclude. A changed base can change one of the amino acids, so the protein changes.the protein changes
- Write the answer. Accept any sentence that says a change in the DNA code can change the amino acids in the protein.
Check. The code is read in groups of three bases. ✓
Method. Think about fertilisation.
- Think. Two gametes fuse at fertilisation.fuse
- Conclude. If the gametes had the full number, the offspring would have double it.double it
- Write the answer. Accept any sentence that says fertilisation then restores the full number, so the offspring has the right number.
Check. Halving keeps the number stable across generations. ✓
Method. Compare body cells and gametes.
- Body cell. A mutation in a body cell stays in that cell and its clones.stays in that cell
- Gamete. A mutation in a gamete can be passed on in the DNA of the offspring.passed on
- Conclude. So only the gamete mutations are inherited.only the gamete
- Write the answer. Accept any answer that says gametes pass their DNA to the offspring, while body cells do not, so only gamete mutations are inherited.
Check. Inheritance depends on the cell where the change happens. ✓
Chapter summary
| Skill | Method |
|---|---|
| DNA and genes | DNA is a double helix in chromosomes; a gene codes for a characteristic; alleles are versions of a gene. |
| Dominant and recessive | Dominant shows if present (capital letter); recessive needs two copies (small letter). |
| Punnett squares | Aa x Aa: 1 AA : 2 Aa : 1 aa; 3 : 1 dominant to recessive; probability 1/4 for aa. |
| Sex determination | Females XX, males XY; the father determines the sex; 1 in 2 for each child. |
| Cystic fibrosis and polydactyly | Cystic fibrosis is recessive (ff); polydactyly is dominant. |
| Pedigrees | Squares are males; circles are females; shaded symbols have the condition. |
| Mutations | A random change in DNA; can change a protein; the source of new alleles. |
| [H] Meiosis and gametes | Gametes have half the chromosome number (23 in humans); fertilisation restores 46. |
Can you…?
- I can describe DNA, genes, alleles and chromosomes
- I can complete a Punnett square and state genotypes and phenotypes
- I can calculate the probability of an outcome from a genetic cross
- I can read a pedigree diagram and say how a condition is inherited
- I can describe mutations as changes in DNA
- [H] I can describe meiosis, base pairing and protein synthesis
Key terms
- DNA
- the molecule that carries genetic information
- chromosome
- a thread of DNA, found in the nucleus
- gene
- a section of DNA that codes for a characteristic
- allele
- one version of a gene
- dominant
- an allele that shows its characteristic if it is present
- recessive
- an allele that shows only when there is no dominant allele
- genotype
- the combination of alleles an organism has
- phenotype
- the characteristic an organism shows
- homozygous
- having two identical alleles of a gene
- heterozygous
- having two different alleles of a gene
- carrier
- a person with one recessive allele who does not show the condition
- mutation
- a random change in DNA
- [H] gamete
- a sex cell, with half the number of chromosomes
Exercise 15Z Check-up
Method. Recall the unit.
- Recall. A gene is a section of DNA that codes for a characteristic.codes for a characteristic
- Write the answer. gene
Check. Genes are on chromosomes. ✓
Method. Recall the dominant allele.
- Recall. The capital letter shows the dominant allele.capital letter
- Name it. So A is dominant.A
- Write the answer. A
Check. The small letter a is recessive. ✓
Method. Read the square.
- Read. The square is AA, Aa, Aa and aa.AA, Aa, Aa, aa
- Count. Only one is AA.1
- Write the answer. 1
Check. 1 out of 4. ✓
Method. Count the phenotypes.
- Count. Three are dominant and one is recessive.three and one
- Ratio. So 3 : 1.3 : 1
- Write the answer. 3 : 1
Check. 3 + 1 = 4. ✓
Method. Recall the male pair.
- Recall. Males have an X and a Y chromosome.an X and a Y
- Write the answer. XY
Check. Females are XX. ✓
Method. Use the Punnett square for Aa x Aa.
- Count. One of the four squares is aa.one of four
- Write the answer. 1/4
Check. 1/4 is 25%. ✓
Method. Recall the condition.
- Recall. Polydactyly is caused by a dominant allele.dominant allele
- Write the answer. polydactyly
Check. Cystic fibrosis is recessive. ✓
Method. Recall the change.
- Recall. A random change in DNA is a mutation.random change
- Write the answer. mutation
Check. Mutations are a source of new alleles. ✓
Method. Recall the convention.
- Recall. A square is a male in a pedigree.a male
- Write the answer. male
Check. A circle is a female. ✓
Method. Think about the dominant allele.
- Think. A carrier has one dominant allele and one recessive allele.one dominant
- Conclude. The dominant allele is enough to stop the recessive one showing.stop the recessive
- Write the answer. Accept any sentence that says one dominant allele is enough to prevent the recessive condition from showing.
Check. The recessive allele is hidden. ✓
Total 27 marks. Allow about 27 minutes.
Exercise 15X Exam-style questions
Method. Recall the unit.
- Recall. A gene codes for a characteristic.codes for
- Write the answer. gene
Check. Alleles are versions of genes. ✓
Method. Recall the allele type.
- Recall. A recessive allele shows only when no dominant allele is present.no dominant allele
- Write the answer. recessive
Check. A dominant allele shows if present. ✓
Method. Count the genotypes.
- Count. AA once, Aa twice, aa once.once, twice, once
- Ratio. So the ratio is 1 : 2 : 1.1 : 2 : 1
- Write the answer. 1 : 2 : 1
Check. 1 + 2 + 1 = 4. ✓
Method. Fill the square, then count the aa squares.
- Square. The square has AA, Aa, Aa and aa.AA, Aa, Aa, aa
- Count. Only one of the four squares is aa.one of four
- Probability. So the probability is 1/4, not 1/2.1/4
- Write the answer. Accept 1/4, and an answer that says only one of the four squares is aa.
Check. Count the squares, not the alleles. ✓
Method. Describe the genotypes and the carrier.
- Recessive. Cystic fibrosis is caused by a recessive allele, so two are needed.two are needed
- Carrier. A carrier has one dominant and one recessive allele, Ff, and does not have the condition.does not have the condition
- Genotype. So the genotype ff gives the condition, and the phenotype follows the genotype.ff gives the condition
- Write the answer. Accept any answer that says the condition needs two recessive alleles (ff), a carrier (Ff) does not have it, and the genotype determines the condition.
Check. Carriers are hidden in pedigrees. ✓
Method. Link the pattern to the genotype of the parents.
- Pattern. Two unaffected parents have affected children, so the condition skips a generation.skips a generation
- Inheritance. This shows the condition is recessive.recessive
- Parents. Each unaffected parent must be a carrier, with one recessive allele.each unaffected parent
- Write the answer. Accept any answer that says the condition is recessive, and each unaffected parent is a carrier.
Check. The pattern and the genotype both matter. ✓
Method. Follow the change from DNA to protein.
- DNA. A mutation is a random change in the DNA.random change in the DNA
- Gene. The change alters a gene, which is a section of DNA.alters a gene
- Protein. The gene may code for a different protein, or a non-working one.different protein
- Allele. The changed gene is a new allele, which can be inherited.new allele
- Write the answer. Accept any answer that says a mutation changes the DNA, which changes a gene, which may change the protein it codes for, creating a new allele.
Check. The chain goes from DNA to protein. ✓
Method. Compare the number of cells and chromosomes.
- Mitosis. Mitosis makes two genetically identical cells, each with the full number.two identical cells
- Meiosis. Meiosis makes gametes, each with half the number of chromosomes.gametes
- Use. Mitosis is for growth and repair; meiosis is for making sex cells.sex cells
- Write the answer. Accept any answer that says mitosis makes two identical cells with the full number, while meiosis makes gametes with half the number.
Check. Two divisions versus one in meiosis. ✓
Method. Describe the stages from DNA to protein.
- Code. The gene contains a code in the order of its DNA bases.code
- Copy. The code is copied into a message.copied into a message
- Build. The message is used to join amino acids in a set order.amino acids
- Protein. So the order of amino acids, and the protein, depends on the gene.depends on the gene
- Write the answer. Accept any answer that says the DNA code is copied and used to build a protein from amino acids in a set order.
Check. The order of bases sets the order of amino acids. ✓
Method. Link the cell type to inheritance.
- Where. The mutation is only in body cells, not in the gametes.only in body cells
- Passing on. Only the DNA in gametes is passed to offspring.passed to offspring
- Result. So the mutation cannot be inherited by the child’s own children.cannot be inherited
- Effect. The child may still be affected by the mutation in their body cells.still be affected
- Conclude. So inheritance depends on whether the change is in the gametes.depends on the gametes
- Write the answer. Accept any answer that says the mutation is not in the gametes, so it cannot be passed to the children, though the child may be affected.
Check. Body cell changes are not inherited. ✓