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1 Colour blindness can be caused by a mutation in a gene. The gene is located on the X chromosome.

The pedigree diagram is for a family which has several people who are colour-blind.

Colour blindness is sex-linked.

State the genotype of person 5.

Use the symbols X and Y for the sex chromosomes and A for the dominant allele and a for the
recessive allele of the gene for colour blindness.

.................................................................................................................................................. [2]

[Total: 2]

2 Petal colour in the flowers of snapdragon plants shows co-dominance.

The gene for petal colour has two co-dominant alleles:

R
• C for red petals

W
• C for white petals

The table shows the genotypes and phenotypes of snapdragon plants with different petal colours.

genotype phenotype
R R
C C red
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W W
C C white
R W
C C pink

(a) Explain the term co-dominance.

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........................................................................................................................................... [2]

(b) A botanist crossed two snapdragon plants with pink flowers.

Complete the genetic diagram to show the ratio of expected phenotypes in the offspring.

offspring genotypes ..........................................................................................................

offspring phenotypes ......................................................................................................

phenotypic ratio .............................................................................................................. [4]

(c) The botanist wanted to produce a generation of snapdragons that all had pink flowers.

State the phenotypes of the parent plants that the botanist would need to cross.

Explain your answer.

parent phenotypes ...........................................................................................................

explanation .......................................................................................................................

...........................................................................................................................................

........................................................................................................................................... [2]

[Total: 8]
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3 The diagram below shows the life cycle of the nematode C. elegans. The diploid number of this
species is 12.

adult which has

both male and
female sex organs

diploid body cells

of the adult
P
egg
sperm

larval stage

embryo passes out

of adult and
not drawn to scale continues
development

(a) Suggest why there is very little genetic variation in the offspring of the adult nematode shown
in the diagram above.

...........................................................................................................................................

...........................................................................................................................................

...........................................................................................................................................

...........................................................................................................................................

........................................................................................................................................... [2]

(b) State the haploid number of C.elegans.

........................................................................................................................................... [1]
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(c) Explain why meiosis occurs at P and mitosis occurs at Q.

meiosis at P.......................................................................................................................

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...........................................................................................................................................

...........................................................................................................................................

mitosis at Q........................................................................................................................

...........................................................................................................................................

...........................................................................................................................................

........................................................................................................................................... [3]

(d) C. elegans was one of the first organisms to have its genome sequenced.

An organism's genome is the sum of all its genetic material. Gene sequencing identifies all
the component parts of the DNA that makes up the genome.

State where DNA is located in a cell.

...........................................................................................................................................

........................................................................................................................................... [2]

[Total: 8]

4 Brachydactyly (club thumbs) is an inherited condition affecting the shape of the thumbs.

Club thumbs are produced when a person inherits a dominant allele.

The diagram below shows a normal thumb and a club thumb.

(a) The diagram below shows part of a family tree. Some of the individuals in the family tree have
club thumbs.
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(i) Person C and person D have four children.

Complete the genetic diagram to show why some of the children have club thumbs and
why some have normal thumbs.

Use the letter T to represent the allele for club thumbs.

Use the letter t to represent the allele for normal thumbs.

[6]
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(ii) Person B is homozygous for the gene for club thumbs.

State the evidence in the family tree which supports this statement.

................................................................................................................................

................................................................................................................................

................................................................................................................................ [1]

[Total: 7]

5 The table contains statements about mitosis and meiosis.

Complete the table by placing ticks (✓) in the boxes to show the correct statements about mitosis
and meiosis.

statement mitosis meiosis

a type of nuclear division

gives rise to genetically different cells

important for the repair of damaged tissues

needed for growth

produces gametes

used in asexual reproduction

[6]

[Total: 6]

6 Define the following genetic terms.

mutation ...................................................................................................................................

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heterozygous ...........................................................................................................................

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recessive allele ........................................................................................................................

..................................................................................................................................................

.................................................................................................................................................. [6]
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[Total: 6]

7 The diagram below shows a family tree where one child has cystic fibrosis.

father mother

1 2 3

Key

unaffected male

unaffected female

affected male

(a) Using the symbols N for the dominant allele and n for the recessive allele:

(i) state the genotypes of the parents

father ...........................

mother ........................... [2]

(ii) state the genotype of child 2 ........................... [1]

(iii) state the possible genotypes of child 1 and child 3.

child 1 ...........................

child 3 ........................... [2]

(b) The parents have another child.

What is the probability (chance) that the child will have cystic fibrosis?

........................................................................................................................................... [1]

[Total: 6]
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8 CFTR proteins in the cells lining the pancreatic duct move chloride ions out of the cells into the
duct.

If CFTR proteins do not move chloride ions, the liquid in the pancreatic duct becomes very sticky
and the duct can become blocked.

Blocked pancreatic ducts are one effect of cystic fibrosis, which is an inherited disease. Cystic
fibrosis is caused by a mutation of the gene that codes for the CFTR protein.

The diagram shows the pedigree diagram of a family that has two people who have cystic fibrosis.
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Person 7 is expecting a child with a man who is heterozygous for cystic fibrosis.

Complete the genetic diagram to predict the probability of person 7 and the heterozygous man
having a child with cystic fibrosis.

Use the symbol A for the dominant allele and a for the recessive allele.

genotypes of offspring ..............................................................................................................

phenotypes of offspring ............................................................................................................

probability of having a child with cystic fibrosis ........................................................................ [5]

[Total: 5]
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9 Colour blindness can be caused by a mutation in a gene. The gene is located on the X chromosome.

The pedigree diagram is for a family which has several people who are colour-blind.
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Colour blindness is sex-linked.

Use the information in the pedigree diagram to complete the genetic diagram to show the probability
of person 3 and person 4 having another child with colour blindness.

offspring
genotypes ..........................................................................................................................

offspring
phenotypes ........................................................................................................................

probability of a child having colour blindness .................................................................... [5]

[Total: 5]