VARIATION

Objective: Describe differences between continuous and discontinuous variation and give
examples of each.
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Definition of variation
In simple terms to ‘vary’ means to change other biology related definitions include;
 This is the genetic difference in characteristics between individuals of the same
species.

Individuals are different despite the fact that the may be of the same species. Even twins vary.
There are two main types of variation being; Continuous/quantitative variation and
Discontinuous/qualitative variation.

1. CONTINUOUS VARIATION
This is the form of variation which there are small differences amongst individuals of the
same species and many intermediate forms.
-These differences can be measured.
-This form of variation is due to the effects of many genes of small effect and contributed
by the environment in some cases.
-Examples of continuous variation include height and intelligence quotients (IQ) in
humans, weight.
-Due to poly-genes i.e. due to many genes interacting together.

2. Discontinuous variation
This form/type of variation shows clear/sharp differences amongst individuals of a
species. It does not show any intermediate forms. This form of variation is seen in
humans as inheritance of one of the blood groups A, B, AB or O and eye colour. The
environment cannot affect this type of variation but can be determined by genes along
with some genetic mutations, since traits like eye colour, blood group and flower colour
are all unchangeable. Other examples of discontinuous variation include; sickle cell
anaemia, tongue rolling, sex determination, red green colour blindness, haemophilia.

What causes variations?

1. Environmental factors such as diet, light intensity, wind velocity, other organisms
(such as pathogens) and altitude.

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2. Genetic factors such as segregation and recombination, independent assortment, co-
dominance, epitasis (effect of one gene that are suppressed by another), hybridisation,
polyploidy (condition where an organism acquires one or more extra sets of
chromosomes; common in plants), crossing over, mutations.
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MONOHYBRID INHERITANCE

Monohybrid inheritance is the study of just one characteristic passed onto the offspring at a
time. for example, the inheritance of seed colour in peas. When studying this form of
inheritance the environmental influence is usually ignored.
Parent Phenotype: Brown seeds X White seeds
Parent genotype: BB X bb
Leave space for the genetic diagram

F1Phenotype: they are all heterozygous brown seeds (considering the fact that Brown allele
is completely dominant over the white seed allele).

Self testing: combining the F1 phenotypes.

F1 phenotype: Brown seeds X Brown seeds

Genotype: Bb X Bb
Complete the genetic diagram

Test/back crossing
How do we differentiate between complete dominant and a heterozygous unknown
genotype?

When an F2 individual which has the phenotype of the dominant parent is crossed with the
recessive parent, the cross is called back/test cross. It can also be defined as the mating of an
organism to a double recessive in order to determine whether it is homozygous or
heterozygous for a character under consideration. It involves a back cross to the recessive
parental type or a cross between two genetically unknown individuals with a fully recessive
tester to determine whether an individual is heterozygous or homozygous for a certain allele.
This method is used to distinguish between homozygous and heterozygous dominant forms.

In such cross, if the F2 individual is homozygous dominant, all the offspring will show the
dominant character. When the F2 individual is heterozygous a 1:1 ratio of the dominant and
recessive character is obtained.

Example 2; (shows a back cross since there is a cross between the heterozygous F1 generation
and the homozygous recessive parent, and it allows all genotypes present in the F1 to be
distinguished.

Parent Phenotypes Brown X White

Parent genotypes Bb X bb

***Complete the resulting phenotype and genotype after this cross***

Mendel’s basic laws of heredity

1. Genes occur impairs (one gene comes from the male parent the other from the
female parent).
2. Genes can be dominant or recessive (one gene of a pair may hide the trait of the
other)

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 3. Genes of pairs separate from each other when gametes are formed (only one gene
goes into a gamete.

Inheritance of blood groups

Human beings have four main blood groups which are A, B, AB and O. Human blood is
determined by genes. It should be noted that the blood groups make the phenotype of the
blood group. The blood group gene has three alleles, IA, IB, and IO. The IA allele gives blood
group A, the IB allele gives blood group B, and IO allele gives blood group O. Alleles IA and
IB is co dominant. Both of these are dominant to allele IO, which is recessive. This gives the
following pattern of possible genotypes and phenotypes.

Genotype Phenotype
IA IA Group A
IA IB Group AB
IA IO Group A
B B
I I Group B
B O
I I Group B
IO IO Group O

From the above illustration, the male can only be the father of children with the blood groups
AB, BO, AO or OO.

What are the possible phenotypes/genotypes of children that could be produced by (a)
male genotype AB and a female genotype/phenotype OO, (b) a male of
genotype/phenotype AO and female of genotype/phenotype AB?

SEX DETERMINATION AND LINKAGE

The gender of an individual is determined by its genes. These genes are located on
chromosomes called sex chromosomes. Of the 46 human chromosomes, 44 are known as
Autosomal chromosomes and the remaining 2 are known to be the Sex chromosomes.

In human, a female has a pair of X chromosomes therefore making the genotype of a female
human being to be XX and females are described as Homogametic since they contain two X.
Males have a single X chromosome and a single Y chromosome making a genotype of XY
and males are described as heterogametic since they have a combination of two different
chromosomes X and Y. The Y chromosome has a gene which determines testis growth and
development
Female = XX
Male= XY

In males about half of the gametes are X and half are Y whereas in females all eggs are X.
During fertilization when the Y sperm and fuses with the egg the zygote becomes a male of
XY. When the X sperm fuses with egg, they form an XX zygote which is female.

1. Which gamete determines the sex of the baby?

timeHow
Each2. is it possible
a couple forthey
have a baby a man toaproduce
have only female
1 in 2 chances offspring’s?
of producing a male.

Parent Phenotypes: Female X Male

Parent Genotypes: XX x XY
Complete the genetic diagram
This concludes that the chances of having either a male or female human offspring are 50/50.

SEX LINKAGE

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There are some diseases that affect one kind of gender/sex. Certain defects and diseases
associated with the sex of an individual. Sex linkage is the appearance of a certain character
(which can be a disease/defect) in one sex. In short sex linkage is genes liked on a sex
chromosome. Some examples of sex linked conditions and diseases include the following;

Baldness effect in some men.

Red green colour blindness in men than in women.
Haemophilia common in men than in women.
Klinefelter’s syndrome (causing male sterilization)

Sex linkage mostly occurs in males than in females because the X chromosome is longer than
the Y chromosome in human, and therefore the X chromosome carries more genes than the Y
chromosome. This makes females to be carriers of such disorders because they carry the gene.
The following shows an example of how red-green colour blindness is inherited;
Let B represent a normal sight and b represent red-green colour blindness.

Parent phenotype: Normal female (carrier) X Normal male

Parent genotype: XB Xb x XB Y
Complete the genetic diagram
It is clear that colour blindness is common in males and less common in females, since in
women one recessive allele is enough to make a colour blind male since there is no
corresponding allele on the Y chromosome. A man who is colour blind may not pass the
condition to his sons but may pass it on indirectly to his grand sons and this can be shown by
a form of a pedigree analysis. A colour blind/carrier woman does not pass the disease to her
daughters if the husband is normal but she does pass them to her sons.
Pedigree analysis show how some conditions are inherited through sex linkage.

Inheritance of haemophilia
Let H: Normal/non-haemophilic and Let h: haemophilic individuals
XH XH : Normal female
XH Xh : Normal female (carrier)
Xh Xh : Haemophilic female
XH Y: Normal male
Xh Y: Haemophilic male

Construct a test cross for the above cross between (a) a carrier female and normal male
and (b) a haemophilic female and a normal male.

Pedigree diagrams
Pedigrees are used to analyze the pattern of inheritance of a particular trait throughout a
family. Pedigrees show the presence or absence of a trait as it relates to the relationship
among parents, offspring, and siblings.