D3.

2 Inheritance

Name:

3.4.U1 Mendel discovered the principles of inheritance with experiments in which large numbers of pea
plants were crossed.

1. Mendel is known as the father of genetics for his extensive experimental work with peas. His findings
enabled him to form the principles of inheritance. Use the DNA Interactive animations) to find out
about Mendel:
 https://www.dnalc.org/view/16002-Gregor-Mendel-and-pea-plants.html
 https://www.dnalc.org/view/16170-Animation-3-Gene-s-don-t-blend-.html

a. State the approximate number of seeds used in each trial.

b. List three examples of traits Mendel investigated.

c. Explain what is meant by the term ‘pure-bred’.

d. Describe the key experimental finding that led to the establishment of the principles of
inheritance.

Nature of science: Making quantitative measurements with replicates to ensure reliability. Mendel’s
genetic crosses with pea plants generated numerical data. (3.2)

2. To reach valid conclusions often statistical tests are used to help analyse the data collected. Outline
why large sample sizes are preferable to smaller ones.

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3.4.U2 Gametes are haploid so contain only one allele of each gene.
3.4.U3 The two alleles of each gene separate into different haploid daughter nuclei during meiosis.
3.4.U4 Fusion of gametes results in diploid zygotes with two alleles of each gene that may be the same
allele or different alleles.

3. State definitions of the following:

Genotype

Phenotype

Dominant allele

Recessive allele

Codominant alleles

Homozygous

Heterozygous

Carrier

Phenotype

Autosomal genes

Sex-linked inheritance

3.4.S1 Construction of Punnett grids for predicting the outcomes of monohybrid genetic crosses.

4. One of Mendel’s experiments looked at the trait for pea colour.

a. Complete the punnet grid below to show the outcome of the monohybrid cross that results in
peas of different colours.

http://bioknowledgy.weebly.com/ (Chris Paine)

b. Complete the punnet grid below to show the possible outcomes of a cross between two
members of the F1 generation. Describe all genotypes produced.

c. A test cross is where an unknown genotype is breed with a homozygous recessive

individual. Explain how a test cross could be used to determine the genotype of a yellow pea.

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3.4.A1 Inheritance of ABO blood groups. AND 3.4.U5 Dominant alleles mask the effects of recessive
alleles but co-dominant alleles have joint effects.

5. Human ABO blood types follow a codominant inheritance pattern.

a. Describe what is meant by “some genes have multiple alleles.”

b. Complete the table (both genotype and phenotype) below to show how blood type
is inherited.

alleles i IA IB
i
IA

IB

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6. State the genotype and phenotype which is an example of codominance.

7. Explain why the identified genotype above is an example of codominance.

8. Complete this pedigree chart to show the inheritance of blood types in this family.

9.

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3.4.S2 Comparison of predicted and actual outcomes of genetic crosses using real data.

10. Cat genetics - do the inherited traits match what we know about cat genes?
a. View the presentation on inheritance (http://www.slideshare.net/diverzippy/bioknowledgy-
presentation-on-34-inheritance) and use the cat genetics slide to predict the expected ratio of
genotypes and phenotype of the piebald trait a based on a cross of the phenotypes shown
by the parents.

Parents male female

Phenotype

Genotype

Gametes

Punnett grid

Offspring

genotype (and ratio)

phenotype (and ratio)

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 b. Complete the table to compare expected genotype ratio with the observed outcomes from the
cross.

genotype observed expected

No white (ss)
Some White (Ss)
Mostly White (SS)

c. Use the chi squared formula and the critical values table to determine whether the actual
outcome matches the predicted cross.

Chi-square value = =

Degrees of freedom (df) = Number of classes – 1 =

Is the hypothesis outlined by the theory of pielbald genetics and the

expected cross outcomes supported by the data? critical values at
df
5%
(is Chi-square value < critical value)
1 3.84
2 5.99
3 7.82
4 9.49
5 11.07

3.4.U8 Many genetic diseases have been identified in humans but most are very rare.

11. Explain why genetic diseases are very rare in humans.

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3.4.U6 Many genetic diseases in humans are due to recessive alleles of autosomal genes, although
some genetic diseases are due to dominant or co-dominant alleles. AND 3.4.A3 Inheritance of cystic
fibrosis and Huntington’s disease.

12. Cystic fibrosis (CF) is caused by a mutation in the CFTR gene. Secretions (e.g. mucus, sweat and
digestive juices) which are usually thin instead become thick. The secretions block tubes, ducts and
passageways. Lung problems in most CF sufferers leads to a early death.
a. Analyse the pedigree chart below and deduce whether CF is a recessive, dominant or
codominant condition. Quote your evidence in your answer.

b. What is the probability of two parents who are both carriers of (one copy of) the recessive
allele producing children affected by CF? Show your workings.

c. Deduce the genotypes of the selected individuals.

Individual Genotype
A
B
$
C
D

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 d. D and $ are planning to have another child. Using the information in the pedigree chart in the
last question to calculate the % chance that the child will suffer from CF.

13. Huntington's Disease (HD) is a brain disorder that affects a person's ability to think, talk, and move.
HD is caused by a mutation in a gene on chromosome 4.
14. Is this a dominant or recessive condition?

15. Is this disorder autosomal or sex-linked

16. Produce a punnett grid to explain the inheritance pattern seen in the offspring of a normal mother
and a heterozygous affected father. Don’t forget to use a key to explain the genotypes and allele
symbols used.

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17. Sickle cell disease is another example of codominant inheritance.
a. State the genotypes description, phenotypes and malaria protection of these individuals.

genotype HbAHbA HbAHbs HbsHbs

description

phenotype
Malaria
protection?

Allele key: HbA produces normal haemoglobin, HbS produces fibrous haemoglobin that causes red blood
cells to sickle.

b. Predict the phenotype ratios of offspring in the following crosses. Show all your working, and set
it out as expected. Take care with notation.

i. Carrier mother with affected father.

ii. Affected father with unaffected mother.

iii. Carrier mother with carrier father.

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3.4.S3 Analysis of pedigree charts to deduce the pattern of inheritance of genetic diseases.

18. The pedigree chart below shows a family affected by sickle cell:
a. Deduce the genotype of each individual with a letter.

A F
B G
C H
D $
E #

b. Calculate the likelihood of any further children produced by E and her # having sickle cell
anemia.

c. Male $ is healthy but of unknown genotype. Calculate the likelihood of any children produced
with female D having sickle cell anemia. Show all working.

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3.4.U7 Some genetic diseases are sex-linked. The pattern of inheritance is different with sex-linked
genes due to their location on sex chromosomes. AND 3.4.A2 Red-green colour blindness and
hemophilia as examples of sex-linked inheritance.

19. Some inherited disorders are associated with gender.

a. State two examples of sex-linked genetic disorders.

b. Explain why sex-linked disorders are more common in males than females.

c. Explain why human females can be homozygous or heterozygous for sex-linked genes, where
males cannot.

d. The allele for colour blindness (n) is recessive to the allele for normal vision (N). This gene is
carried in a non-homologous region on the X chromosome. Complete the table below to show
the genotypes and phenotypes of individuals with regard to colour blindness.

Female Male

Normal XN XN

Affected

Carrier Not possible! Why?

e. In the space below, complete a punnet grid to show a cross between a normal male and a
carrier female. What is the expected ratio of phenotypes?

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20. Hemophilia is a blood-clotting disorder that is also recessive and sex-linked.
a. State the normal function of the gene associated with hemophilia.

b. Describe the signs and symptoms of hemophilia.

c. Use the pedigree chart to deduce the possible genotype(s) of the named individuals.

Leopold

Helen

Alice

Mary

Rubert

Bob

Britney

d. Suggest reasons why the frequency of some disease-related alleles might be increasing in the
population.

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