Variation and dna (1)
Variation and dna (1)
DNA
▪ DNA, or deoxyribonucleic acid,
is the molecule that contains
the instructions for the growth
and development of all
organisms
▪ It consists of two strands of
DNA wound around each other
in what is called a double helix
▪ The individual units of DNA
are called nucleotides
▪ All nucleotides contain the same
phosphate and deoxyribose sugar,
but differ from each other in
the base attached
▪ There are four different
bases, Adenine (A), Cytosine (C),
Thymine (T) and Guanine (G)
▪ The bases on each strand pair up
with each other, holding the two
strands of DNA in the double helix
▪ The bases always pair up in the same
way:
▪ Adenine always pairs with Thymine (A-T)
▪ Cytosine always pairs with Guanine (C-G)
▪ The phosphate and sugar
section of the nucleotides
form the ‘backbone’ of the
DNA strand (like the sides
of a ladder) and the base
pairs of each strand
connect to form the rungs
of the ladder
• Continuous Variation is when there are very many small degrees of difference
for a particular characteristic between individuals and they are arranged in order
and can usually be measured on a scale
• Examples include height, mass, finger length etc. where there can be many ‘in-
between’ groups
• Discontinuous Variation is when there are distinct differences for a
characteristic
• For example, people are either blood group A, B, AB or O; are either male or
female; can either roll their tongue or not – there are no ‘in-betweens’
▪ When graphs of these data are
plotted, continuous variation
gives smooth bell curves (a
result of all the small degrees
of difference), whereas
discontinuous variation gives a
step like shape
PHENOTYPIC VARIATION
▪ Phenotypic variation can be caused in two main ways:
• Examples include:
• blood group
• eye color
• gender
• Most mutations have no effect on the phenotype as the protein that a mutated
gene produces may work just as well as the protein from the non-mutated gene
• Rarely, mutations lead to the development of new alleles and so new phenotypes
and if they do, most have a small effect on the organism
• Occasionally, the new allele gives the individual a survival advantage over other
members of the species
▪ • For example:
• Which causes the bird to breed more frequently and have more chances of
passing on the mutated phenotype to the next generation
CAUSES AND EFFECTS OF MUTATION
▪ • Mutations can also lead to harmful changes that can have dramatic effects on the
body – for example, sickle cell anemia in humans
• Gamma rays, x – rays and ultraviolet rays – all types of ionizing radiation
which can damage bonds and cause changes in base sequences
• Increased rates of mutation can cause cells to become cancerous, which is why
the above are linked to increased incidence of different types of cancer
SICKLE CELL ANEMIA
▪ Symptoms
• Sickle cell anemia was the first genetic disease to be described in terms of a
gene mutation
• The mutation changes the molecule hemoglobin, causing the red blood cells
(RBC’s) to become stiff and sometimes sickle-shaped when they release oxygen to
the body tissues
• The sickled cells tend to get stuck in narrow blood vessels, blocking the flow of
blood
▪ • As a result, those with sickle cell disease suffer painful “crises” in their joints and
bones
• They may suffer strokes, blindness, or damage to the lungs, kidneys, or heart.
They must often be hospitalized for blood transfusions and are at risk for a life-
threatening complication called acute chest syndrome
• Although many sufferers of sickle cell disease die before the age of 20, modern
medical treatments can sometimes prolong these individuals’ lives into their 40s
and 50s
INHERITANCE