GENETICS AND

I N H E R I TA N C E
L H L U B I
ACTIVITY 1
• Pg 107 WCED Textbook
GREGOR MENDEL
• Gregor Mendel, an Austrian monk (a type of priest), is regarded as the father of genetics for his
work on garden pea plants that helped explain how genes are passed from parents to offspring.
• Mendel’s work on the genetics of peas began with the observation of peas to determine what traits
were inherited. He noticed at least 7 traits that appeared to be inherited. These traits were:
• seed shape
• seed colour
• pod shape (pod – the container holding a plant’s seeds)
• pod colour
• flower colour
• flower position (whether axial – on the side, or terminal – on top)
• stem length
M E N D E L’ S E X P E R I M E N T S
• Mendel noticed that garden peas occur in at least two heights – tall (T) and short
(t)
• Since peas are self-pollinating, tall peas tend to produce tall peas, and short peas
produce short peas.
• Mendel’s first genetic cross involved tall peas cross-pollinated with short peas
• The result: in the first group of offspring (the F1 generation), the cross yielded
only tall peas
• Mendel then took the F1 peas and crossed them with themselves (interbreeding)
to produce a second group of offspring (an F2 generation)
• The result: tall and short peas, in a ratio of 3:1 (3 tall: 1 short or dwarf)
M E N D E L’ S L A W S O F G E N E T I C
I N H E R I TA N C E
1. Mendel’s First Law of Inheritance- The Law of Segregation
• States that each trait is controlled by two alleles situated on homologous chromosomes. When
gametes form during meiosis, the two alleles are separated or segregated. A gamete contains
one of the alleles from each parent.
2. Mendel’s Second Law of Inheritance- The Law of Dominance
• Certain alleles of a gene exist in either a dominant or a recessive form. If the pair of alleles are
different (one dominant, one recessive), the phenotype will only show the dominant trait.
3. Mendel’s Third Law of Inheritance- The Law of Independent Assortment
• Due to the random arrangement of chromosomes during meiosis (gamete formation), any one of
the two alleles of ONE characteristic can sort with any one of ANOTHER characteristics. The
alleles of different genes move independently of each other into the gametes. They can therefore
appear in the gametes in different combinations.
GENETIC DIAGRAMS
• It is important to start with a PAIR of alleles in the mother and another PAIR in
the father because each individual inherits TWO alleles for a gene – one
maternal and one paternal (the bivalent chromosomes).
• This pair may be identical (HOMOZYGOUS) or different (HETEROZYGOUS)
alleles.
• Alleles are represented by letters: CAPITALS (for dominant alleles) or small
letters (for recessive alleles).
• P stands for the Parent generation
• F stands for the offspring (Filial generation) – remember F for Family. F1
generation is the first filial generation, F2 the second.
GENETIC CROSSES
• It is important to learn the exact layout because marks are allocated for the layout as well as the
correct working out of the cross. Use the following genetic diagram or template to solve all genetic
crosses
You need to read genetics questions with great care to find the clues concerning:
 which characteristic (phenotype) is being examined, e.g.: shape of seeds
 which allele of the pair is dominant, e.g.: round
 whether the parents are homozygous or heterozygous for the characteristic: e.g.: both are
heterozygous
 what letters are to be used (are they given OR must you choose letters), e.g.: R (dominant allele)
and r (recessive allele)
 show how the alleles are separated during meiosis to form gametes
 show all the possible ways the sperm and egg can combine during fertilisation
 distinguish the phenotypes from the genotypes
M ONOHYBRI D CROSSES
• Monohybrid crosses refer to genetic crosses that involve only a single
characteristic or trait.
• Dihybrid crosses involve two characteristics or traits.
The following monohybrid crosses are dealt with:
• monohybrid crosses with complete dominance
• monohybrid crosses with incomplete dominance
• monohybrid crosses with co-dominance
• sex determination
• inheritance of sex-linked diseases
• multiple alleles e.g.: blood grouping
 • In complete dominance, the dominant allele masks or blocks
1.1 the expression of the recessive allele in the heterozygous
condition.
COMPLETE • Problem 1: Seeds can be round or wrinkled. Use a genetic
DOMINANCE cross to show the genotype and the phenotype of the F1
generation when two heterozygous plants with round seeds
are crossed. The allele for round seeds is dominant over the
allele for wrinkled seed. Use the letter R for round and r for
wrinkled seeds.
• Problem 2: Mendel crossed homozygous plants with green
seeds with homozygous plants which had yellow seeds and
found that all the offspring were yellow (Figure 3). Construct
a genetic diagram (using the above template) to show the F1
and F2 generations. Choose a letter for each allele. Note: use
one letter: capitalised for the dominant allele and small
(lower-case) for the recessive allele.
• Problem 3: The ability to roll one’s tongue is a dominant
characteristic. Explain without a genetic diagram why it is
possible for a non-roller child to be born to parents who can
both roll their tongues. Use the letters R and r in your answer.
ACTIVITY 2
• Pg 114 WCED Textbook
1.2 INCOMPLETE DOMINANCE
• A cross between two phenotypically different parents where no allele of the
gene is either dominant or recessive. The offspring is different to both parents
and the alleles blend to form a new phenotype.
• The genotype of the parents will be RR and WW as they are homozygous
where both alleles for the gene are the same. The fact that the offspring have
a new phenotype pink which is formed from red and white, tells you that
there is no dominant or recessive allele.
ACTIVITY3
1. Two grey mice were mated. Some of the offspring were grey, others black and some
white. How is this possible? Do a genetic cross to explain this result. (6)
2. Incomplete dominance is seen in the inheritance of hypercholesterolemia (high blood
cholesterol levels). H represents the allele for very high levels and L for low levels.
a) Sipho and Andiswa are both heterozygous for this characteristic and both have high
cholesterol levels but not as high as their daughter Sihle who has levels that are six
times above normal. She is homozygous for high cholesterol levels. Do a full genetic
diagram to explain your answer. (7)
b) What is the percentage chance that their next child will have low cholesterol levels?
(1)
c) What is the percentage chance that their next child will have extremely high
cholesterol levels like Sihle? (1) (15)
1.3 CO-
DOMINANCE
• In co-dominance both alleles of
the gene are equally dominant so
both will be expressed equally in
the phenotype of the offspring.
1 . 4 S E X D E T E R M I N AT I O N
• In humans, there are 46 chromosomes (i.e. 23 from the mother and 23 from
the father). Of these 46 chromosomes, 44 control the appearance, structure
and functioning of the body. These are called autosomes. The remaining pair
determines the sex of the individual and are called the gonosomes. In a
female the gonosomes are two large X chromosomes and in the male, there is
one large X chromosome and a smaller Y chromosome.
• Joshua and Angelina have 7 sons and Angelina is pregnant again.
Show by means of a genetic cross what the percentage chance is of
the couple having a baby girl (11 marks)
 1 . 5 S E X- L I N K E D I N H E R I TA N C E
• Although most of the bodily characteristics are carried on the 22 pairs of autosomes, there are a few
characteristics carried on the gonosomes only. Thus, for example, the gene for hair growing on the inside of
the pinna is carried on the Y chromosome, so only men will have this characteristic.
• Certain sex-linked genetic disorders are carried on the allele found on the X chromosome only. Two of these
disorders are colour blindness and haemophilia.
• A person is colour-blind if unable to tell different colours apart. For example, red-green colour blindness is
caused by an absence of the proteins that make up the red or green cones (photoreceptors) in the retina of
the eye resulting in the person not being able to tell the difference between red and green.
• Haemophilia is the inability of the blood to clot due to lack of a blood clotting factor. If the sufferers were to
cut themselves, the wound would continue to bleed until a clotting factor is transfused in hospital.
• Colour blindness and haemophilia is caused by the recessive allele on the X-chromosome normally shown
as Xb for colour blindness and (Xh ) for haemophilia
• As a result, men who have only one X chromosome, have a greater risk of inheriting these disorders.
• Women, on the other hand, have a much lower chance of inheriting two X chromosomes which both carry
the recessive allele for the disorder. If a woman inherits one X chromosome with the recessive allele for the
disorder, she is called a carrier as she does not show signs of the disorder but can pass it on to her
children.
 S E X- L I N K E D D I S O R D E R S O N
THE CHROMOSOME
Inheritance of haemophilia Inheritance of colour blindness
ACTIVITY4
• Pg 121-122 WCED Textbook
1 . 5 . 3 C O N T.

i) Explain why cystic fibrosis is not a sex-linked disease. (2)

ii) Use a genetic cross to show what percentage of children will be affected if one of
the parents is heterozygous and the other is homozygous normal. The recessive
allele is represented as b. (6)
iii) Maggie and William want to start a family, but Maggie’s brother had cystic fibrosis.
She doesn’t want her own child to suffer as her brother did. Maggie and William
decided to visit a genetic counsellor. Explain how this may help Maggie and William
in their decision. (2)
(20)
1 . 6 M U LT I P L E A L L E L E S
• The genetic crosses dealt with thus far involved two alleles of a gene, e.g.: T
or t, R or W. Sometimes a characteristic is however controlled by more than
two alleles. Blood type (or blood grouping) is an example of such a
characteristic.
• There are four blood types in humans: A, B, AB or O.
• These phenotypes are controlled by three alleles but each person still inherits
two alleles. It is very important to know how to name (or write down) these
three alleles as they are very specific to blood groups namely I A, I B or i.
USE OF BLOOD GROUPS IN
PAT E R N I T Y T E S T I N G
• The blood groups of the mother, possible father and child must be compared. If the blood
groups of the adults do not correspond to or match the child’s blood group, then this man is
not the father. If the blood groups of the adults correspond to or match the child’s blood
group, then there is a possibility that the man is the father, and other tests need to be done
as other men may have the same blood group.
• Only DNA profiling can be conclusive as it looks at the similarities between the nucleotides
in the DNA of the father and the child. Each DNA profile is unique to an individual.
• 50 % of the DNA fragments / bands / bars are derived from the mother and 50 % from the
father.
• If 50 % of the DNA fragments / bands / bars correspond with the father, then it can be
claimed that he is the father of the child. DNA is viewed as more reliable evidence of
paternity than the use of blood groups.
ACTIVITY 5
1. If the child has blood group O and the mother blood group A, could the man with blood group
AB be the father of that child? Use a genetic diagram to explain your answer. (6)
2. Human blood groups are controlled by multiple alleles.
a) List all the alleles that control human blood groups. (3)
b) How many of the alleles named in a) can any individual inherit? (1)
c) Give a reason for your answer to question b). (1)
d) Which 2 alleles are co-dominant in the inheritance of blood groups? (2)
e) A man has blood group A and his wife blood group B. Their first child has blood group AB
and the second child blood group O. What can one conclude about the blood groups of their
future children? (3)
(15 marks)
ACTIVITY 6
• Pg 126
PEDIGREE DIAGRAMS
• A pedigree diagram (also called a family tree) is used to study the inheritance
of characteristics in a family over a number of generations
• Males are indicated using squares
• Females are indicated using circles
• Marriage lines run horizontally
• Offspring lines run vertically
INTERPRETING PEDIGREE
DIAGRAMS
Step 1: Study any key and opening statement/s and look for dominant and recessive characteristics and phenotypes. Brown eye colour (B) is
dominant over blue eye colour (b) – as stated in the problem
Step 2: Write in the phenotypes of all the individuals as given in the problem.
 Joshua, Jack and John are males with blue eyes.
 Veronica and Marlena are females with blue eyes.
 Peter and Frank are males with brown eyes.
 Ronel, Sarah and Gayle are females with brown eyes.
Step 3: Fill in the genotype of all the individuals with the recessive condition – it must have two recessive alleles (two lower case letters, e.g. bb).
• Joshua, Veronica, Marlena, Jack and John will have the genotype ‘bb’.
• The recessive characteristic only shows up in the homozygous condition
Step 4: For every individual in the diagram that has the recessive condition, it means that each allele was obtained from each of the parents.
Work backwards and fill in one recessive allele for each parent.
Step 5: If the parents showed the dominant characteristic, fill in the second letter which represents the dominant allele (a capital letter, e.g. B).
The genotype of Peter is ‘Bb’ – working backwards from the offspring Marlena or Jack or John who are homozygous recessive. This means that one
of the recessive alleles of Marlena, Jack and John, i.e. ‘b’, must have come from parent Peter and the other one from parent Veronica
Step 6: Any other individual showing the dominant characteristic will most likely be homozygous dominant (BB) or heterozygous dominant (Bb).
Ronel could be homozygous dominant (BB) or heterozygous dominant (Bb)
ACTIVITY
• Complete activity 7 WCED pg 128-130
M U TAT I O N S
• A mutation is caused by a permanent change to the DNA of a cell. Mutations can be harmless, harmful or useful. Harmless mutations mostly
involve changes to the non-coding DNA (which makes up 98,5% of the DNA). This DNA is not involved in making proteins.
• Mutations can occur in genes or chromosomes.
• It does not affect the structure or functioning of the cell/organism. Examples: freckles, blonde hair, baldness.
Harmful mutations
• change the DNA responsible for the production of a specific protein.
• This would cause changes to the organism’s physical appearance or functioning due to an incorrect / defective protein being made.
• may cause a genetic disorder.
Useful mutations
• also change the DNA responsible for the production of a specific protein.
• If the protein made increases the organism’s chance of survival, it would be seen as a useful mutation.
• If the gene is passed on, it will lead to genetic variation that is advantageous to the individual.
• Genetic variation is important to the processes of natural selection.
• In natural selection, organisms with traits that allow them to survive in the environment are more likely to pass on their genes.
• Natural selection is responsible for these mutations either being passed on to the future generations or not.
G E N E M U TAT I O N
• Gene mutations occur during replication if a base pair is added, left out or doubled up. This
changes the sequence of bases in DNA. Examples of gene mutations are haemophilia, colour-
blindness, sickle cell anaemia, albinism.
• Haemophilia and colour blindness are sex-linked gene mutations on the Xchromosome.
• Sickle cell anaemia is an autosomal disease common in Central Africa, India and South America. It
is caused by a gene mutation which results in a faulty haemoglobin molecule being formed. The
red blood cells which are made have a half-moon shape (hence the term ‘sickle’). Not only can
these cells not carry enough oxygen (resulting in anaemia), but the shape means that the cells
stick to each other blocking small capillaries. This causes damage in organs such as the brain and
kidneys.
• Albinism is a rare group of genetic disorders which results in a lack of the pigment melanin. It is
caused by a recessive gene mutation which prevents the normal development of colour in skin,
hair or eyes.
NON-DISJUNCTURE
REFER TO MEIOSIS MODULE