Variations

Introduction
 Genetics is the scientific study of inherited variation
 Human genetics is the scientific study of inherited
human variation
 Gene pool – all of the alleles of all individuals in a
population
 Variation
 Variation is the range of differences that there are
between individual organisms.
 Variation can be within species or between species.
 We study this variation in order to better understand
ourselves as a species and use this knowledge to
improve our health and well-being
Importance of Variations
 1. Variations make some individuals
better fitted in the struggle for existence.
 2. They help the individuals to adapt
themselves according to the changing
environment.
 3. Discontinuous variations or mutations
produce new traits in the organisms.
 Importance of Variations
❖ 4. Variations allow breeders to improve races
of useful plants and animals for increased
resistance, better yield, quicker growth and
lesser input.
❖ 5. They constitute the raw material for
evolution.
❖ 6. Variations give each organism a distinct
individuality.
 Importance of Variations
❖ 7. Because of variations, species do not remain
static. Instead, they are slowly getting modified
forming new species with time.
❖ 8. Pre-adaptations caused by the presence of
neutral variations are extremely useful for
survival against sudden changes in
environment, e.g., resistance against a new
pesticide or antibiotic.
Importance of Variations

9.Orthogenetic (directional or
determinate) variations take
part in formation of new
species.
What variations
can you see ?

These snails are

all the same
species (Cepaea
femoralis) but

© Jane Burton
they vary
considerably
The snails’ shells vary in
Color
Presence or absence of
bands
Number of bands
What variations can you see?
Humans (Homo sapiens) vary in:
skin color
hair color
hair curliness
eye color
sex
 Variation
 Variations are simply differences in genetic sequence
 Variation can be seen at every genetic level:
 In the DNA
 In the genes
 In the chromosomes
 In the proteins
 In the function of proteins
Variation
 Is a difference or deviation in structure or
characteristics from others of the same
species.
 Provides the raw materials for adaptation
 Provides individual characteristics
 Is between the differences of plants and
animals on the same species
 Variations
Variation- is a change in the form, position,
condition or amount of the organism.
- is a difference or deviation in structure
or characters from others of the same
species
- provides the raw materials for
adaptation
- is the differences of plants and
animals on the same species
What are the possible causes of
variations? Give specific examples
 Variations may be inherited or acquired
1. Inherited variations result from the activity of genes.
They are genetically controlled and cannot be altered.
It can be caused by either genetic differences
(genotypic variations-genes-inherited).

E.g. DNA mutation

Gene Flow
Sexual Reproduction
Sex determination
Mental retardation
Infant deformities
Examples of Inherited variations
 hair colour, skin colour (except effects
of tanning), blood group, finger prints
and sex determination, mental
retardation, infant deformities
What are the possible causes of
variations? Give specific examples
2. Acquired characteristics (Environmental) result from an
individual’s activities or nutrition or from environmental
conditions during a lifetime. They cannot be inherited.
It can be caused by the effect of environmental factors
on the expression of the genetic potentials
(phenotypic variation- acquired).

Examples: Language, athletic skills, body building, sun
tan, physical deformities, obesity, camouflage
different shades on birds’ feathers
 Variation
A great many variations are influenced by
both genetic and environmental effects.
For example your height will depend on
what genes you inherit and the amount of
food you get during your growing period.
 Variation
 Meiosis results in genetic variation by
mixing of maternal and paternal
chromosomes and crossing over.
 No daughter cells formed during meiosis
are genetically identical to either mother
or father.
 During sexual reproduction, fusion of the
unique haploid gametes produces truly
unique offspring.
 Causes of Genetic Variation
 Genetic Drift
- the change in the gene pool of a small
population due to chance
 Natural Selection
- success in reproduction based on heritable traits
results in selected alleles being passed to
relatively more offspring (Darwinian inheritance)
- Cause ADAPTATION of Populations
 Causes of Genetic Variation
 Crossing Over
-Exchange of segments of chromosomes
during meiosis

 Gene Flow
-is genetic exchange due to the
migration of fertile individuals or
gametes between populations
 Causes of Genetic Variation
 Mutations
 A change in an organism’s DNA
 Mutations can be transmitted in gametes to
offspring
 Non-random mating
 Mates are chosen on
 the basis of the best traits
 How would you know or identify if the cause of
variation is genetic, environmental or both?
Genetics- this is caused by exchange of genes,
mutational events, disease-causing alleles,
chromosomal abnormalities , autosomal aberrations.
* Environmental – this is caused by differences in
terms of color of the skin that depends on where we
came from (racial categories ).
*Both- genetic clustering (ecoregion, diet, bone
formation), geographic ancestry ( Asian, European,
African )
Classify these variations as to species
characteristics or individual characteristics
a. Thorns in the stalk of the rose flower – species
b. Body size of ants – individual
c. Color of the apple skin – individual
d. Color mosaic in San Francisco leaf – species
e. Number of body segments in worm –
individual
Fingerprints- tiny ridges, whorls and valley
patterns on the tip of each finger
-they form from pressure on a
baby’s tiny developing fingers in
the womb
- there is one in a 64 Billion
chance that your fingerprint
will match up exactly
with someone else’s.
 What are Phenocopies?
Give examples each
a. A phenocopy is a trait found in an
organism that develops as a result
of environmental factors and which
approximates an identical or similar
trait in another organism in which
that trait is present due to genetic
factors.
 What are Phenocopies?
Give examples each.
 b.
Phenocopies are variations in an
organism that resembles a genetic
one but has environmental rather
than genetic cause and is not
inherited.
Examples of phenocopies.

a. hair has become lighter in shade due to

prolonged exposure to bright sunlight, as opposed
to another whose hair is naturally that color, is one
example of the difference between a phenocopy
and a genetic trait.

b. Snowshoe hares (fast animal that

resembles a rabbit), for instance, have a coat that
becomes white during the winter but reverts to
mottled brown and grey shades during the
summer.
Which do you think is the most
important type of variation? Why?
 1. Morphology - deals with the forms of living
organisms and with the relationship between their
structures.
 2. Physiological- deals with the normal functions of
living organisms and their parts.
 3. Sexual – relating to the instinct, physiological
processes, and activities connected with the physical
attractions or intimate physical contact between
individuals.
 4. Behavioral- the actions or reactions to a person or
thing in response to external and internal stimuli.
Types of Variations in Human
A. Morphological Variations
1.Structural(Physical traits/Gross
anatomical)
Examples:
colors ( skin, eyes, hair, petals), height,
shape (eyes,ears,face, with or without
widows peak, attached or free earlobe, size
of the body, weight of the body,
(measurable), dimples, cleft chin, hairline,
freckles, eyebrow, size
 2.
Cellular, subcellular, molecular
characteristics

❑ Examples:
kind of hemoglobin in the RBC
Kind of glycoproteins on the cell
membrane
Kind of DNA
B. Behavioral ( combined structures and
physiological pattern of characteristics
of reaction to its environment.)
Examples:
 IQ, mental retardation, tolerance level,
sleep deprivation, autism, ADHD, anxiety)
 C. Physiological (Functional)- functions
Examples:
a. Photosynthesis, failure to perform photosynthesis
b. Biochemical and biophysical process ( inability
to absorb glucose like diabetes),
c. Inability to distinguish colors like color blindness,
d. inability to synthesize certain amino acids, eye
vision, hobbies, talents
 Types of Variations in Human

D.Sexual – the most phenotype

characterization of an organism
 -capacity for reproduction together with the
features with it.
 1. Primary sexual differences in the genitalia and
gonads
 2. Secondary sexual traits- non sexual but
related to mating and rearing of young
Secondary sexual traits
 -broadening of the hips
 -development of breast in human female
 -adam’s apple in male human
 -smaller body of male frogs
 - vocal sacs in male frog
 -swollen thumb of frogs
 Difference between
DISCONTINUOUS CONTINUOUS
 this is where individuals fall  - is the combined effect
into a number of distinct of many genes (known as
classes or categories, and is polygenic inheritance)
based on features that and is often significantly
cannot be measured across affected by
a complete range. environmental influences.
- There are clear cut difference  there are range of values
and there is no in between.  When the characteristics
varies in small amount
 E.g. sexual traits and between individuals
characters, blood type,  E.g. Height, age, weight ,
fingerprint, eye color, sex, finger length,
tongue rolling