Inheritance and Genetics

Concepts in inheritance
Mendel as father of genetics
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

Mendel’s Experiments
 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)

Mendel’s Laws of Inheritance

Mendel formulated the following laws from his experiments.

Mendel’s First Law of Inheritance: Law (principle) of Segregation

 Each trait is controlled by two factors (now known as alleles) situated on homologous chromosomes.
 When gametes form during meiosis, the two factors (alleles) are separated or segregated. A gamete
contains one of the two factors (alleles) from each parent.

Mendel’s Second Law of Inheritance: 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.

Mendel’s Third Law of Inheritance: Law (principle) of Independent Assortment

 Due to random arrangement of chromosomes at the equator 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

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
 Monohybrid 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

Monohybrid crosses with complete dominance

Mendel’s work as discussed above shows monohybrid crosses with complete dominance. In complete
dominance, the dominant allele masks or blocks the expression of the recessive allele in the heterozygous
condition.
The following example represents a genetic cross which shows complete
dominance.

Genetic problem 1
Seeds can be round or wrinkled. Use a genetic 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.

Monohybrid cross with incomplete dominance

Incomplete dominance is 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 following problem represents a genetic cross which shows incomplete dominance:

Genetic problem 2
A homozygous red-flowering plant crossed with a homozygous white- flowering plant
will produce plants that have pink flowers (Figure 6).
Complete a genetic diagram to show how this is possible using the letter R for red
and W for white
 The characteristic being investigated is
flower colour; the alleles are red (R) and
white (W).
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.

Monohybrid crosses with 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.
The following problem represents a genetic cross which shows co-dominance:

Genetic problem 3
In cattle three colour variations are possible (Figure 7): red, white or red and white in
patches. This comes about due to a red allele (R) and a white allele (W) for coat
colour. Do a genetic cross between a red bull and a white female to show the
possible offspring.

The characteristic being investigated

is coat colour which is controlled by
two alleles R and W. The F1 offspring
show both phenotypes together so this
is co-dominance. The offspring will
have a genotype of RW which is red
and white patches
Sex determination
The following problem represents a genetic cross which shows inheritance of sex
Genetic problem 4: A couple has three sons and the woman is pregnant again. Show by means of a genetic
cross what the percentage chance is of the couple having a baby girl

The genetic cross above shows that the

percentage chance of having a boy or a girl is
50%.

 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.
 Each species has its own unique number, shape and size of chromosomes – this is called the karyotype.
 After meiosis, an egg cell will have 22 autosomes + an X gonosome.
 A female will have two large X gonosomes while a male will have an X gonosome and a Y gonosome
 Males thus have two types of sperm: half will have 22 + X chromosomes, and the other half will have 22 +
Y chromosomes.
 Depending on which sperm reaches the egg, there is a 50% chance of the zygote being male and a 50%
chance of the zygote being female.

Sex-linked inheritance
 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 sufferer 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 onto her children.

Table 3: Inheritance of haemophilia Table 4: Inheritance of colour-blindness

Multiple alleles – blood type / group

 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. I A is co-dominant to I B whereas i is recessive to both.
 The genotypes for each blood group can then be specified as follows:
Use of blood groups in paternity testing
 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

Dihybrid crosses
 Dihybrid crosses involve two pairs of alleles representing two different characteristics, e.g.: the height of a
plant and the colour of its seeds.
 According to the Law of Independent Assortment, alleles of different genes move (segregate)
independently of each other into the gamete.
 They therefore appear on the gametes in different combinations.
Example of a dihybrid cross In pea plants, the allele for tallness (T) is dominant and the allele for shortness (t)
is recessive. The allele for purple flowers is dominant (P) and the allele for white flowers is recessive (p).
Two plants, heterozygous for both tallness and purple flowers were crossed.
 Genetic lineage (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. The pedigree diagram in Figure 10 (see next page) shows inheritance of eye
colour in humans over three generations of a family. Brown eye colour (B) is dominant over blue eye colour
(b).

 Squares represent males and circles represent

females
 The horizontal line between a square (Joshua) and
a circle (Ronel) shows that they have mated.
 The vertical line flowing from the horizontal line
represents the offspring (Sarah and Peter) of the two
parents (Joshua and Ronel).

Remember the following steps when 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. o 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 Sarah Peter Veronica Marlena Frank Jack Gayle Ronel John
Male with blue eyes Male with brown eyes Female with brown eyes Female with blue eyes 127 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)
 Mutations
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.
 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.
Mutations can occur in genes or chromosomes.
Gene mutations
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 X chromosome.
 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.
Unfortunately, there are many prejudices towards albinos. They are often portrayed as villains in movies, are
regarded as bringing bad luck, and are at times murdered for their body parts. Albinos have weak eyes that
are light sensitive and have a very light skin that is susceptible to skin cancer. They are perfectly normal in
all other respects.
Chromosome aberrations
Chromosome aberrations occur during Anaphase I if the chromosomes of a bivalent do not separate. Both
chromosomes go to the same pole, and thus the chromosome number of the gametes changes. An example of
a chromosome aberration is Down syndrome. Down Syndrome was discussed in Chapter 2 under abnormal
meiosis. During Anaphase I / II, the non-disjunction of chromosome pair 21 will lead to the formation of a
gamete with an extra (or one less) chromosome number 21. If this gamete fuses with a normal gamete, zygote
with 3 (or only 1) chromosomes number 21 will form
 Biotechnology
 For centuries, humans have used artificial selection to breed the best food crops, farm animals and pets
(think of all the different varieties of dogs that exist today).
 With modern science, however, humans can manipulate the actual DNA of organisms.
 Biotechnology is the use of organisms (e.g. bacteria) or biological processes to improve the quality of
human life, as for example, in DNA profiling, genetic engineering, stem cell technology and cloning.
DNA profiling
DNA profiling was dealt with in Chapter 1. It is a form of biotechnology used for paternity testing, the
identification of individuals, and for many other purposes.
Genetic engineering
Genetic engineering is used to alter the genome of a living cell for medical, industrial or agricultural
purposes. This results in a genetically modified organism (GMO) or transgenic animal (animal with DNA
from more than one species). GMO’s are used …
 to breed more productive crops or animals so that more food can be made
 to produce drugs or hormones (e.g. insulin) which have fewer side-effects and is cheaper
 to ‘infect’ cells to cure diseases (gene therapy) such as brain tumours and cystic fibrosis
One process used to produce a GMO is recombinant DNA technology. It can be used to manufacture human
insulin using E. coli bacteria. The process can be summarised as follows:

Advantages of genetically modified plants

 Pest resistance – the plants no longer taste good to insects.
 Herbicide tolerance – the crop plant is immune to poison, so large amounts can be used to kill the weeds.
 Disease resistance – these plants are hardy and do not get affected by diseases.
 Improved food quality – do not have damage due to pests or diseases so look good.
 Cold tolerance – rice and tobacco have been engineered to be unaffected by sudden drops in temperature.
 Drought or salinity tolerance – this helps plants grow in areas previously unsuitable for agriculture. 
Nutritionally enhanced – for example adding vitamin A to rice (a staple food in Asian countries) by
introducing a gene from a daffodil.
 Incorporating vaccines into bananas/potatoes – this means that vaccines are made by the plant which can
then be transported to countries easily without having to be refrigerated.
Disadvantages of GMO’s
 GMO’s contain glyphosate due to extensive spraying of herbicide.
 They are expensive so only ‘rich’ countries can benefit.
 The possibility of error is great as the process is complex.
 There has been no long-term safety testing as it is a relatively new technology.
 People may be allergic to the inserted gene e.g. brazil nut gene in soya beans.
 Widespread use of GMO crops may lead to a loss of biodiversity.
 New pathogens could be made for biological warfare.
 Ethically there is a fine line between what can be done and what should be done. Only time will tell whether
GMO’s would solve the food security issues. Theoretically the potential benefits are huge, but there are
significant risks. This also applies to the medical field and development of new drugs or ways to administer
the drugs.
Stem cell technology
Stem cells are undifferentiated cells that have the ability to grow into any tissue in the body. They may be
harvested from embryos left over after IVF treatment, from bone marrow and from blood in the umbilical
cord. Skin and cartilage stem cells have also been used. Notes about stem cells technology
 Embryonic stem cells are the most versatile as they have the ability to form any tissue. However, as the
human embryos are killed, this is a controversial technology.
 Adult stem cells are much less controversial. Bone marrow has been used for a long time to treat cancers of
the blood e.g. leukaemia, but other types of stem cell treatments are constantly being explored. Some of the
procedures have involved:
o replacing dead cells in the heart after a heart attack
o growing skin tissue to treat burn victims
o growing nerve cells to treat spinal cord injuries and Parkinson’s disease However, a great deal more
research is needed before these procedures are perfected. Parents who believe that there will be success in the
future, are able to collect umbilical cord blood from their babies at birth. This blood can now be frozen and
stored for future use. Although such facilities are available in South Africa, it is an expensive option.
Cloning
 Cloning is the natural or artificial process of creating a genetically identical copy of an organism or
biological material (e.g. tissue). The organism produced in this way is called a clone.
 Cloning happens naturally when asexual reproduction takes place or a plant is self-pollinated or when
identical twins are formed from a single zygote.
 These processes all give rise to individuals with DNA identical to that of the parent.
 Biotechnology has enabled cloning to produce a new individual that is an exact copy of the organism from
which the body cell was taken.

Advantages of cloning
 Therapeutic cloning can replace damaged tissue e.g. skin, heart cells and bone marrow, so helping to save
human lives.
 Genetic diseases could be prevented.
 Superior animals may be bred to improve food supply and quality.
 Research in any form improves skills and could open other avenues due to spin-off technologies which
could help mankind in the future.
The process of cloning
 Sheep A is the superior animal to be cloned. Sheep B is inferior, but hardy, so it can survive the harvesting
of eggs.
 An egg cell from sheep B is taken and the nucleus is removed.
 A body (somatic) cell from the genetically superior sheep (sheep A) is collected.
 The nucleus with DNA from cell A is removed and placed into the “empty” egg cell B.
 The egg cell is stimulated with a shock so that it starts dividing by mitosis.
 The egg cell now has DNA from the superior sheep A and will grow into an embryo.
 The embryo is then placed into the uterus of a surrogate or foster mother (sheep C) and should develop to
full term.
 The baby (lamb) is clone of sheep A meaning it will be an exact copy of sheep A.
Mitochondrial DNA and tracing genetic links
 Mitochondrial DNA (mtDNA) is important for an understanding of evolution.
 Mitochondrial DNA (mtDNA) is found in mitochondria and contains 37 genes which are needed to make
the proteins involved in cellular respiration.
 As there is no crossing over involving mtDNA, the only changes that occur are due to mutations.
 mtDNA mutates at a regular rate so scientists are able to analyse these mutations to work out a timeline of
genetic ancestry.
 Only the mother’s mtDNA is passed on to her offspring (male and female). This is because the father’s
mtDNA is found in the cytoplasm of the sperm cell which is discarded, together with the tail, at the time of
fertilisation.
 So, by analysing the mtDNA, the scientists can compare the mutations of different people to see how closely
related they are.