Biology Paper 2

Combined Science (Higher)

Inheritance
 By the end of this topic, you should be able to:

• Describe what is meant by a gamete and how gametes are differentto normal body
cells in terms of the number of chromosomes.
Describe the differences between sexual reproduction and asexual reproduction.

• Describe the stages in meiosis and how this leads to the formationof gametes.

• Describe what is meant by fertilisationand differentiation.

• Describe what is meant by a gene and the genome.

• Describe the possible benefits of studying the human genome.

• Describe the structure of DNA in terms of the double helix.
• Describe what is meant by an allele and describe the differencebetweena
dominant and a recessive allele.
• Describe how alleles can be homozygous or heterozygous.

• Describe what is meant by genotype and phenotype.

• Construct genetic diagrams showing how cystic fibrosis and polydactylyare inherited.
Explain how a person can be a carrier of a recessive allele but not a carrier of a
dominant allele.
• Interpretfamily trees to describe how alleles are inherited.

Describe how sex is inherited in humans.

 Sexual and Asexual Reproduction
I. The chromosomes in a cell contain the instructions which the cell uses to carry out its function.
a. Complete the sentences below by using the correct words from the list.

paired meiosis copies identical gametes nucleus pairs

We find chromosomes in the of cells. In a normal human cell, there are 23

of chromosomes. Normal human cells are produced by a type of cell division

called mitosis. Mitosis produces two identical of a cell. However, cells such as

sperm and eggs are different.These are called In these, the chromosomes

are not Human gametes contain 23 single chromosomes.Gametes are

formed by a type of cell division called Gametes are not

b. The diagram shows two types of cells.

How does the number of chromosomes show that these
cells are not from a human?

Cell A Cell B
c. Tick the correct boxes below to show which statement applies to which cell.

This cell was produced by cell division by mitosis

The chromosomes are not paired

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The chromosomes are found in pairs

This cell could be a sperm or egg cell

This cell was producedby cell division by meiosis

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2. Animals and flowering plants carry out sexual reproduction.

The diagram shows a sperm cell fusing (joining)with an egg cell.

sperm egg
a. State the names of the gametes in flowering plants.

b. Complete the sentences below by circling the correct words.

implantation
Sperm, eggs and pollen are all examples of gametes. When gametes join, this is called fertilisation
reproduction

mixing
In sexual reproduction there is a splitting of genetic informationfrom the male and female parents.
separation

identical
There is variation in the offspring because every gamete is genetically equal to each other.
different

3. The diagram shows a spider plant. Spider plants can carry out asexual reproduction.
a. The baby spider plants are genetically identical to the parent plant.
What do scientists call genetically identical organisms?

b. Explain why the baby spider plants are genetically identicalto

the parent spider plant.

babies

c. The following statements apply to either sexual reproduction or asexual reproduction.

next to asexual reproduction.
Write "S" next to the statements which apply to sexual reproduction and "AS"

Only one Only involves Involves

parent needed mitosis meiosis

Involves Does not involve Offspring are not

Offspring are
fertilisation genetically identical
genetically identical fertilisation

Involves Two parents No gametes

gametes needed used
 Meiosis and Fertilisation
1. Meiosis is essential for sexual reproduction.
a. Circle the boxes below to show where meiosis takes place.

b. Meiosis produces gametes.

Describe the difference between a gamete cell and a normal body cell (eg a muscle cell).

c. The stages of meiosis are shown below.

Remember that normal human cells have 23 chromosome pairs. However, only three chromosome pairs are shown.
Describe what is taking place during each stage.

Stage 3

Gametes each with23

End single chromosomes

word from each pair.

d. Completethe sentences below by selecting the correct

Meiosis produces two / four gamete cells.

doubled / halved compared to the original cell.

The number of chromosomes is

alleles / genes.
Gametes are genetically differentas they have different

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 2. The diagram shows fertilisation taking place (note that only three chromosome pairs are shown).

male
gamete
fertilisedegg

fertilisation

female
gamete

a. Complete the diagram to show the names of the male and female gametes in humans.
b. Complete the male and female gametes to show the chromosomes before fertilisation.
c. Why is it importantthat meiosis halves the number of chromosomes when producing gametes?
You should refer to fertilisation in your answer.

d. Complete the sentence below.

In meiosis the chromosome number is but in fertilisation it is

3. After fertilisation, the fertilised egg undergoes cell division,

forming a ball of identical cells.

a. What do scientists call the ball of identicalcells?

Cell division by

b. Which type of cell division is taking place? Writethis in the diagram.

use the diagram to explain your answer.

c. After some time, the cells begin to differentiate.

Describe what is meant by "differentiate"

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 DNA and the Genome
1. The diagram shows a cell. This is not a human cell.
a. Label the diagram to show the nucleus and the
chromosomes.
b. How can we tell from the diagram that this cell is
not a gamete?

c. Complete the sentences below by using the correct

words from the list.
smaller helix polymer DNA two inherited genetic
Chromosomes contain the molecule
Because it
controls our features, DNA is called the

material.DNA consists of strands wrapped around each

other. Scientists call this the double Each strand is made

by joining molecules. Because of this, we say that the

DNA molecule is a DNA

Gene
d. A gene is a small section on a chromosome.
Protein encoded
The diagram shows the gene encoding a protein molecule. by gene
Describe how the instructions in the gene determine the
structure of the protein.

amino
acids

2. Scientists have worked out the genome of humans.

a. Complete the sentence below to explain what is meant by the word "genome"

The genome is the entire of an organism.

b. Draw linesfo link the statements at the top with the correct statementsat the bottom.

Studying the genome allows us to Studying the genome helps us to Studying the genome helps us to
identifr the genes which increase learn about human migration develop better treatments for
tie risk of conditions such as pattems. This is useful for ... inherited conditions such as ...
 Alleles
1. The diagram shows a pair of human chromosomes. chromosome chromosome
from mother from father
a. Use the diagram to fill in the gaps below.
Gene for
proteinA
We have copies of each chromosome.

We inheritone copy from each of our Gene for

proteinB
Because of this we have two copies of every Gene for
proteinC

b. Draw lines to connect the words on the left with the correct definitions on the right.

Alleles This person has two copies of the same allele

Genotype This allele only determines the phenotype if two copies are present

Homozygous
• This person has two different alleles

Phenotype • This allele determines the phenotype even if only one copy is present

Heterozygous • This tells us the alleles that a person has for a given gene

Dominant allele These are different versions of a gene

Recessive allele • This tells us the characteristics caused by a person's alleles

c. Lactose is a sugar found in milk.

In human adults, the ability to digest lactose (D) is dominant to the inabilityto digest lactose (d).
heterozygous.
For the genotypes below, state the person's phenotypeand whetherthey are homozygousor

genotype = dd genotype = DD genotype = Dd

Phenotype = Phenotype=
Phenotype =
Homozygous / Heterozygous Homozygous / Heterozygous
Homozygous / Heterozygous

d. In mice, Black hair (B) is dominant to brown hair (b).

genotype.
Complete the boxes below to show the missing phenotypes and
Show whetherthe mice are homozygous or heterozygous.

genotype = genotype= BB
genotype= Bb
Phenotype = brown hair Phenotype=
Phenotype=
Homozygous / Heterozygous Homozygous / Heterozygous
Homozygous / Heterozygous

by several genes acting together,

e. Give an example of a feature in humans which is controlled

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 Cystic Fibrosis
Exam tip: Remember that unlike cystic fibrosis, most phenotypes are caused by multiple genes
acting together. This can explain why not every cross produces simple ratios in the offspring.

1. Cystic fibrosis is a conditioncaused by a single gene.

a. Which part of the cell is affected by cystic fibrosis?

b. The gene which causes cystic fibrosis has alleles.

The allele for unaffected (C) is dominant. The allele for cystic fibrosis is recessive (c).
Connect the genotype with the correct phenotype and show whether the person is homozygous or heterozygous.

cc This person is a carrier for cystic fibrosis

Homozygous

cc This person has cystic fibrosis.

Heterozygous
This person is not affected by cystic fibrosis

2. The Punnett square shows what happens when a carrier Unaffected parent
for cystic fibrosis has children with a non-affectedperson. Genotype= CC
gametes
a. Complete the Punnett square to show the expected c c
genotypes and phenotypes of the offspring.

b. Complete the box to show the expected ratio of c

offspring which are carriers and which are unaffected.

Carriers : Unaffected
c

Carrier parent 3. The Punnettsquare shows what happenswhen

Genotype= Cc two carriers of cystic fibrosis have children.
gametes
c a. Complete the Punnett square to show the expected
genotypes and phenotypes of the offspring.
b. Complete the box to show the expected ratio of
offspring.

Unaffected : Carriers : Cystic fibrosis

c

above.
c. Explain why actual number of offspring with each genotype may not match the ratios predicted
 Polydactyly
1. Polydactylyis anotherconditioncaused by a single gene.
a. How is a person with polydactyly affected?

b. Select the correct words to explain why a person cannot be a carrier of polydactyly?

Because the polydactyly allele is recessive / dominant you only need

one copy / tvvocopies/ three copies of the allele to have polydactyly.

c. The Punnett square shows a person with polydactyly

and a person who is not affected by polydactyly. Parent with polydactyly
gametes Genotype = Pp
Complete the diagram to show the expected p p
genotypes and phenotypes of the offspring.

d. Complete the box to show the ratio of the phenotypes.

Polydactyly : Unaffected

e. Explain why the actual ratio of offspring may not match the ratio predicted by the Punnett square.

2. Embryo screening can be used when there is a risk of passing on an inheriteddisorder.

Complete the sentences below by using the correct words from the list.
economic desirable change destroyed unethical

healthy allele implanted benefits

Embryos
In embryo screening, we test embryos for the presence of the defective

without the defective allele are into the woman and develop into

offspring. Some people feel that the do not justify the cost. This is an

Some people feel that this is

issue. In embryo screening, some healthy embryos are
alleles to prevent
In the future, gene therapy could allow doctors to

and gene therapy could allow

inherited disorders. However, some people worry that embryo screening

us to select offspringfor features.This is a social issue.

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 Family Trees
1. The allele which leads to cystic fibrosis is recessive.
a. The boxes show three differentgenotypes involving the cystic fibrosis gene.
In each case, circle the correct phenotype of a person with the genotype shown.

unaffected
carrier
cystic fibrosis

The diagram below shows a family tree involving the cystic fibrosis allele.

male without female without male with female with

U cystic fibrosis cystic fibrosis cystic fibrosis cystic fibrosis

1 2 3 4

5 6 7 8 9

10 11 12
b. State the genotype of person 5. Explain your answer.

c. How does the family tree prove that cystic fibrosis is caused by a recessive allele?

d. If person 1 and 2 had another child, what is the probabilitythat it would have cystic fibrosis?

e. Can we be certain that persons 7 and 8 are not carriers of the cystic fibrosis allele?

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 2. The diagram below shows a family tree involving the polydactyly allele.

male without r e—sqfemale without male with female with

polydactyly
1-.........1 polydactyly polydactyly polydactyly

1 2 3 4

5 6 7 8

9 10
a. Which of the following is the genotype of person 7? Explain your answer.

b. If person 6 and 7 had one more child, what is the probabilitythat it would have polydactyly.

3. Hair length in cats is determinedby a gene. This has an allele for long hair and an allele for short hair.
The diagram shows a family tree for hair length.

male with female with male with female with

I I longhair long hair short hair short hair

1
2 3 4

5 6 7 8 9

10 11
Does the diagram show that the long hair allele is dominant or recessive? Explain your answer.

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 Inheritance of Sex
1. A person's sex is determine by the chromosomes they inheritfrom their parents.
a. Complete the sentences below by circling the correct words.

21
In humans, 22 of our chromosome pairs determine our inherited features eg eye colour.
23

The remainingchromosomepair determinesour sex. In males this is XY and in females it is

b. The Punnettsquare below shows the sex chromosomesfor a couple.

Complete the Punnettsquare as follow.
• Write the gametes for the male and the female parents
Complete the sex chromosome genotypes for the offspring
• Determine whether each offspring is male or female

Male parent
gametes Sex chromosomes

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c. State the ratio and percentages of male to females predictedby the above Punnettsquare.
Ratio Percentages

Male Female Male Female

d. Why can the ratio above not be used to predict the number of male or female children in a family?

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